-
1
-
-
77954578417
-
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging
-
(Research Support, Non-U.S. Gov't)
-
Ahmed Z., Sheng H., Xu Y.F., Lin W.L., Innes A.E., Gass J., et al. Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. The American Journal of Pathology 2010, 177(1):311-324. (Research Support, Non-U.S. Gov't).
-
(2010)
The American Journal of Pathology
, vol.177
, Issue.1
, pp. 311-324
-
-
Ahmed, Z.1
Sheng, H.2
Xu, Y.F.3
Lin, W.L.4
Innes, A.E.5
Gass, J.6
-
2
-
-
0017885589
-
Stoichiometric and site characteristics of the binding of iron to human transferrin
-
(Research Support, U.S. Gov't, P.H.S.)
-
Aisen P., Leibman A., Zweier J. Stoichiometric and site characteristics of the binding of iron to human transferrin. The Journal of Biological Chemistry 1978, 253(6):1930-1937. (Research Support, U.S. Gov't, P.H.S.).
-
(1978)
The Journal of Biological Chemistry
, vol.253
, Issue.6
, pp. 1930-1937
-
-
Aisen, P.1
Leibman, A.2
Zweier, J.3
-
3
-
-
80054737024
-
Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Almeida S., Zhou L., Gao F.B. Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins. PLoS One 2011, 6(10):e26454. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2011)
PLoS One
, vol.6
, Issue.10
-
-
Almeida, S.1
Zhou, L.2
Gao, F.B.3
-
5
-
-
67349100157
-
Ferritins: A family of molecules for iron storage, antioxidation and more
-
(Research Support, Non-U.S. Gov't Review)
-
Arosio P., Ingrassia R., Cavadini P. Ferritins: A family of molecules for iron storage, antioxidation and more. Biochimica et Biophysica Acta 2009, 1790(7):589-599. (Research Support, Non-U.S. Gov't Review).
-
(2009)
Biochimica et Biophysica Acta
, vol.1790
, Issue.7
, pp. 589-599
-
-
Arosio, P.1
Ingrassia, R.2
Cavadini, P.3
-
6
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Baker M., Mackenzie I.R., Pickering-Brown S.M., Gass J., Rademakers R., Lindholm C., et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 2006, 442(7105):916-919. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 916-919
-
-
Baker, M.1
Mackenzie, I.R.2
Pickering-Brown, S.M.3
Gass, J.4
Rademakers, R.5
Lindholm, C.6
-
7
-
-
0027358877
-
Endothelial-cell heme uptake from heme proteins: Induction of sensitization and desensitization to oxidant damage
-
(In Vitro Research Support, U.S. Gov't, P.H.S.)
-
Balla J., Jacob H.S., Balla G., Nath K., Eaton J.W., Vercellotti G.M. Endothelial-cell heme uptake from heme proteins: Induction of sensitization and desensitization to oxidant damage. Proceedings of the National Academy of Sciences of the United States of America 1993, 90(20):9285-9289. (In Vitro Research Support, U.S. Gov't, P.H.S.).
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.20
, pp. 9285-9289
-
-
Balla, J.1
Jacob, H.S.2
Balla, G.3
Nath, K.4
Eaton, J.W.5
Vercellotti, G.M.6
-
8
-
-
0026657174
-
Ferritin: A cytoprotective antioxidant strategem of endothelium
-
(Research Support, U.S. Gov't, P.H.S.)
-
Balla G., Jacob H.S., Balla J., Rosenberg M., Nath K., Apple F., et al. Ferritin: A cytoprotective antioxidant strategem of endothelium. The Journal of Biological Chemistry 1992, 267(25):18148-18153. (Research Support, U.S. Gov't, P.H.S.).
-
(1992)
The Journal of Biological Chemistry
, vol.267
, Issue.25
, pp. 18148-18153
-
-
Balla, G.1
Jacob, H.S.2
Balla, J.3
Rosenberg, M.4
Nath, K.5
Apple, F.6
-
9
-
-
84871365925
-
-
Cambridge University Press, Cambridge; New york, ix, 376 p
-
Barton J.C. Handbook of iron overload disorders 2010, Cambridge University Press, Cambridge; New york, ix, 376 p.
-
(2010)
Handbook of iron overload disorders
-
-
Barton, J.C.1
-
10
-
-
0023974608
-
Gaucher disease
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review)
-
Beutler E. Gaucher disease. Blood Reviews 1988, 2(1):59-70. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review).
-
(1988)
Blood Reviews
, vol.2
, Issue.1
, pp. 59-70
-
-
Beutler, E.1
-
11
-
-
33646703576
-
Gaucher disease: Multiple lessons from a single gene disorder
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review)
-
Beutler E. Gaucher disease: Multiple lessons from a single gene disorder. Acta Paediatrica 2006, 95(451):103-109. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review).
-
(2006)
Acta Paediatrica
, vol.95
, Issue.451
, pp. 103-109
-
-
Beutler, E.1
-
12
-
-
67650509100
-
Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
-
Bras J., Paisan-Ruiz C., Guerreiro R., Ribeiro M.H., Morgadinho A., Januario C., et al. Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal. Neurobiology of Aging 2009, 30(9):1515-1517.
-
(2009)
Neurobiology of Aging
, vol.30
, Issue.9
, pp. 1515-1517
-
-
Bras, J.1
Paisan-Ruiz, C.2
Guerreiro, R.3
Ribeiro, M.H.4
Morgadinho, A.5
Januario, C.6
-
13
-
-
55949119836
-
Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease
-
Bras J., Singleton A., Cookson M.R., Hardy J. Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. The FEBS Journal 2008, 275(23):5767-5773.
-
(2008)
The FEBS Journal
, vol.275
, Issue.23
, pp. 5767-5773
-
-
Bras, J.1
Singleton, A.2
Cookson, M.R.3
Hardy, J.4
-
14
-
-
84861723960
-
Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
-
(Research Support, Non-U.S. Gov't)
-
Bras J., Verloes A., Schneider S.A., Mole S.E., Guerreiro R.J. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Human Molecular Genetics 2012, 21(12):2646-2650. (Research Support, Non-U.S. Gov't).
-
(2012)
Human Molecular Genetics
, vol.21
, Issue.12
, pp. 2646-2650
-
-
Bras, J.1
Verloes, A.2
Schneider, S.A.3
Mole, S.E.4
Guerreiro, R.J.5
-
15
-
-
13944258097
-
Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells
-
(Comparative Study Research Support, Non-U.S. Gov't)
-
Bright N.A., Gratian M.J., Luzio J.P. Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells. Current Biology 2005, 15(4):360-365. (Comparative Study Research Support, Non-U.S. Gov't).
-
(2005)
Current Biology
, vol.15
, Issue.4
, pp. 360-365
-
-
Bright, N.A.1
Gratian, M.J.2
Luzio, J.P.3
-
16
-
-
82955164167
-
Iron disorders of genetic origin: A changing world
-
(Research Support, Non-U.S. Gov't Review)
-
Brissot P., Bardou-Jacquet E., Jouanolle A.M., Loreal O. Iron disorders of genetic origin: A changing world. Trends in Molecular Medicine 2011, 17(12):707-713. (Research Support, Non-U.S. Gov't Review).
-
(2011)
Trends in Molecular Medicine
, vol.17
, Issue.12
, pp. 707-713
-
-
Brissot, P.1
Bardou-Jacquet, E.2
Jouanolle, A.M.3
Loreal, O.4
-
17
-
-
0015264490
-
Electron microscopical studies on rat brain neurons. Localization of acid phosphatase and mode of formation of lipofuscin bodies
-
Brunk U., Ericsson J.L. Electron microscopical studies on rat brain neurons. Localization of acid phosphatase and mode of formation of lipofuscin bodies. Journal of Ultrastructure Research 1972, 38(1):1-15.
-
(1972)
Journal of Ultrastructure Research
, vol.38
, Issue.1
, pp. 1-15
-
-
Brunk, U.1
Ericsson, J.L.2
-
19
-
-
0036710928
-
Lipofuscin: Mechanisms of age-related accumulation and influence on cell function
-
(Research Support, Non-U.S. Gov't Review)
-
Brunk U.T., Terman A. Lipofuscin: Mechanisms of age-related accumulation and influence on cell function. Free Radical Biology & Medicine 2002, 33(5):611-619. (Research Support, Non-U.S. Gov't Review).
-
(2002)
Free Radical Biology & Medicine
, vol.33
, Issue.5
, pp. 611-619
-
-
Brunk, U.T.1
Terman, A.2
-
20
-
-
0036236006
-
The mitochondrial-lysosomal axis theory of aging: Accumulation of damaged mitochondria as a result of imperfect autophagocytosis
-
(Research Support, Non-U.S. Gov't Review)
-
Brunk U.T., Terman A. The mitochondrial-lysosomal axis theory of aging: Accumulation of damaged mitochondria as a result of imperfect autophagocytosis. European Journal of Biochemistry / FEBS 2002, 269(8):1996-2002. (Research Support, Non-U.S. Gov't Review).
-
(2002)
European Journal of Biochemistry / FEBS
, vol.269
, Issue.8
, pp. 1996-2002
-
-
Brunk, U.T.1
Terman, A.2
-
21
-
-
79951993462
-
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Cao Y., Staropoli J.F., Biswas S., Espinola J.A., MacDonald M.E., Lee J.M., et al. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One 2011, 6(2):e17118. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2011)
PLoS One
, vol.6
, Issue.2
-
-
Cao, Y.1
Staropoli, J.F.2
Biswas, S.3
Espinola, J.A.4
MacDonald, M.E.5
Lee, J.M.6
-
22
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
(Research Support, Non-U.S. Gov't)
-
Cruts M., Gijselinck I., van der Zee J., Engelborghs S., Wils H., Pirici D., et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 2006, 442(7105):920-924. (Research Support, Non-U.S. Gov't).
-
(2006)
Nature
, vol.442
, Issue.7105
, pp. 920-924
-
-
Cruts, M.1
Gijselinck, I.2
van der Zee, J.3
Engelborghs, S.4
Wils, H.5
Pirici, D.6
-
23
-
-
0032527617
-
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Das A.K., Becerra C.H., Yi W., Lu J.Y., Siakotos A.N., Wisniewski K.E., et al. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. The Journal of Clinical Investigation 1998, 102(2):361-370. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(1998)
The Journal of Clinical Investigation
, vol.102
, Issue.2
, pp. 361-370
-
-
Das, A.K.1
Becerra, C.H.2
Yi, W.3
Lu, J.Y.4
Siakotos, A.N.5
Wisniewski, K.E.6
-
24
-
-
37549059612
-
Regulation of iron acquisition and storage: Consequences for iron-linked disorders
-
(Research Support, N.I.H., Extramural Review)
-
De Domenico I., McVey Ward D., Kaplan J. Regulation of iron acquisition and storage: Consequences for iron-linked disorders. Nature Reviews. Molecular Cell Biology 2008, 9(1):72-81. (Research Support, N.I.H., Extramural Review).
-
(2008)
Nature Reviews. Molecular Cell Biology
, vol.9
, Issue.1
, pp. 72-81
-
-
De Domenico, I.1
McVey Ward, D.2
Kaplan, J.3
-
25
-
-
26944475263
-
The lysosome turns fifty
-
(Historical Article)
-
de Duve C. The lysosome turns fifty. Nature Cell Biology 2005, 7(9):847-849. (Historical Article).
-
(2005)
Nature Cell Biology
, vol.7
, Issue.9
, pp. 847-849
-
-
de Duve, C.1
-
26
-
-
84862189804
-
Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration
-
(Research Support, Non-U.S. Gov't)
-
Dehay B., Ramirez A., Martinez-Vicente M., Perier C., Canron M.H., Doudnikoff E., et al. Loss of P-type ATPase ATP13A2/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration. Proceedings of the National Academy of Sciences of the United States of America 2012, 109(24):9611-9616. (Research Support, Non-U.S. Gov't).
-
(2012)
Proceedings of the National Academy of Sciences of the United States of America
, vol.109
, Issue.24
, pp. 9611-9616
-
-
Dehay, B.1
Ramirez, A.2
Martinez-Vicente, M.3
Perier, C.4
Canron, M.H.5
Doudnikoff, E.6
-
27
-
-
0028958289
-
Biogenesis of phagolysosomes: The 'kiss and run' hypothesis
-
Desjardins M. Biogenesis of phagolysosomes: The 'kiss and run' hypothesis. Trends in Cell Biology 1995, 5(5):183-186.
-
(1995)
Trends in Cell Biology
, vol.5
, Issue.5
, pp. 183-186
-
-
Desjardins, M.1
-
28
-
-
33846691564
-
Iron uptake and metabolism in the new millennium
-
(Research Support, Non-U.S. Gov't Review)
-
Dunn L.L., Suryo Rahmanto Y., Richardson D.R. Iron uptake and metabolism in the new millennium. Trends in Cell Biology 2007, 17(2):93-100. (Research Support, Non-U.S. Gov't Review).
-
(2007)
Trends in Cell Biology
, vol.17
, Issue.2
, pp. 93-100
-
-
Dunn, L.L.1
Suryo Rahmanto, Y.2
Richardson, D.R.3
-
29
-
-
0033033260
-
Homozygosity in Huntington's disease
-
(Case Reports Letter)
-
Durr A., Hahn-Barma V., Brice A., Pecheux C., Dode C., Feingold J. Homozygosity in Huntington's disease. Journal of Medical Genetics 1999, 36(2):172-173. (Case Reports Letter).
-
(1999)
Journal of Medical Genetics
, vol.36
, Issue.2
, pp. 172-173
-
-
Durr, A.1
Hahn-Barma, V.2
Brice, A.3
Pecheux, C.4
Dode, C.5
Feingold, J.6
-
30
-
-
0037334339
-
At the acidic edge: Emerging functions for lysosomal membrane proteins
-
(Research Support, Non-U.S. Gov't Review)
-
Eskelinen E.L., Tanaka Y., Saftig P. At the acidic edge: Emerging functions for lysosomal membrane proteins. Trends in Cell Biology 2003, 13(3):137-145. (Research Support, Non-U.S. Gov't Review).
-
(2003)
Trends in Cell Biology
, vol.13
, Issue.3
, pp. 137-145
-
-
Eskelinen, E.L.1
Tanaka, Y.2
Saftig, P.3
-
31
-
-
0027373649
-
Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD)
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.)
-
Gabizon R., Rosenmann H., Meiner Z., Kahana I., Kahana E., Shugart Y., et al. Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). American Journal of Human Genetics 1993, 53(4):828-835. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.).
-
(1993)
American Journal of Human Genetics
, vol.53
, Issue.4
, pp. 828-835
-
-
Gabizon, R.1
Rosenmann, H.2
Meiner, Z.3
Kahana, I.4
Kahana, E.5
Shugart, Y.6
-
32
-
-
3042577347
-
Targeted mutagenesis of the murine IRP1 and IRP2 genes reveals context-dependent RNA processing differences in vivo
-
(Research Support, Non-U.S. Gov't)
-
Galy B., Ferring D., Benesova M., Benes V., Hentze M.W. Targeted mutagenesis of the murine IRP1 and IRP2 genes reveals context-dependent RNA processing differences in vivo. RNA 2004, 10(7):1019-1025. (Research Support, Non-U.S. Gov't).
-
(2004)
RNA
, vol.10
, Issue.7
, pp. 1019-1025
-
-
Galy, B.1
Ferring, D.2
Benesova, M.3
Benes, V.4
Hentze, M.W.5
-
33
-
-
1242318577
-
Gaucher's disease: A paradigm for interventional genetics
-
(Review)
-
Germain D.P. Gaucher's disease: A paradigm for interventional genetics. Clinical Genetics 2004, 65(2):77-86. (Review).
-
(2004)
Clinical Genetics
, vol.65
, Issue.2
, pp. 77-86
-
-
Germain, D.P.1
-
34
-
-
84872094776
-
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement
-
Guerreiro R.J., Lohmann E., Bras J.M., Gibbs J.R., Rohrer J.D., Gurunlian N., et al. Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. Archives of Neurology 2012, 1-7.
-
(2012)
Archives of Neurology
-
-
Guerreiro, R.J.1
Lohmann, E.2
Bras, J.M.3
Gibbs, J.R.4
Rohrer, J.D.5
Gurunlian, N.6
-
35
-
-
84872057940
-
TREM2 variants in Alzheimer's disease
-
(Meta-Analysis Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't)
-
Guerreiro R., Wojtas A., Bras J., Carrasquillo M., Rogaeva E., Majounie E., et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine 2013, 368(2):117-127. (Meta-Analysis Research Support, N.I.H., Extramural Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't).
-
(2013)
The New England Journal of Medicine
, vol.368
, Issue.2
, pp. 117-127
-
-
Guerreiro, R.1
Wojtas, A.2
Bras, J.3
Carrasquillo, M.4
Rogaeva, E.5
Majounie, E.6
-
36
-
-
0038394715
-
Multiple monoubiquitination of RTKs is sufficient for their endocytosis and degradation
-
(Research Support, Non-U.S. Gov't)
-
Haglund K., Sigismund S., Polo S., Szymkiewicz I., Di Fiore P.P., Dikic I. Multiple monoubiquitination of RTKs is sufficient for their endocytosis and degradation. Nature Cell Biology 2003, 5(5):461-466. (Research Support, Non-U.S. Gov't).
-
(2003)
Nature Cell Biology
, vol.5
, Issue.5
, pp. 461-466
-
-
Haglund, K.1
Sigismund, S.2
Polo, S.3
Szymkiewicz, I.4
Di Fiore, P.P.5
Dikic, I.6
-
37
-
-
68649097307
-
The genetics of Parkinson's syndromes: A critical review
-
(Review)
-
Hardy J., Lewis P., Revesz T., Lees A., Paisan-Ruiz C. The genetics of Parkinson's syndromes: A critical review. Current Opinion in Genetics & Development 2009, 19(3):254-265. (Review).
-
(2009)
Current Opinion in Genetics & Development
, vol.19
, Issue.3
, pp. 254-265
-
-
Hardy, J.1
Lewis, P.2
Revesz, T.3
Lees, A.4
Paisan-Ruiz, C.5
-
38
-
-
0242320195
-
Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis
-
(Research Support, Non-U.S. Gov't Review)
-
He Z., Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. Journal of Molecular Medicine 2003, 81(10):600-612. (Research Support, Non-U.S. Gov't Review).
-
(2003)
Journal of Molecular Medicine
, vol.81
, Issue.10
, pp. 600-612
-
-
He, Z.1
Bateman, A.2
-
39
-
-
0000573973
-
Endosomes
-
Helenius A., Mellman I., Wall D., Hubbard A. Endosomes. Trends in Biochemical Sciences 1983, 8(7):245-250.
-
(1983)
Trends in Biochemical Sciences
, vol.8
, Issue.7
, pp. 245-250
-
-
Helenius, A.1
Mellman, I.2
Wall, D.3
Hubbard, A.4
-
40
-
-
0035170833
-
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
-
(Research Support, Non-U.S. Gov't)
-
Holopainen J.M., Saarikoski J., Kinnunen P.K., Jarvela I. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). European Journal of Biochemistry / FEBS 2001, 268(22):5851-5856. (Research Support, Non-U.S. Gov't).
-
(2001)
European Journal of Biochemistry / FEBS
, vol.268
, Issue.22
, pp. 5851-5856
-
-
Holopainen, J.M.1
Saarikoski, J.2
Kinnunen, P.K.3
Jarvela, I.4
-
41
-
-
0024572637
-
The human glucocerebrosidase gene and pseudogene: Structure and evolution
-
(Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Horowitz M., Wilder S., Horowitz Z., Reiner O., Gelbart T., Beutler E. The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 1989, 4(1):87-96. (Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(1989)
Genomics
, vol.4
, Issue.1
, pp. 87-96
-
-
Horowitz, M.1
Wilder, S.2
Horowitz, Z.3
Reiner, O.4
Gelbart, T.5
Beutler, E.6
-
42
-
-
42949118684
-
Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
-
(Review)
-
Hruska K.S., LaMarca M.E., Scott C.R., Sidransky E. Gaucher disease: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Human Mutation 2008, 29(5):567-583. (Review).
-
(2008)
Human Mutation
, vol.29
, Issue.5
, pp. 567-583
-
-
Hruska, K.S.1
LaMarca, M.E.2
Scott, C.R.3
Sidransky, E.4
-
43
-
-
78449286213
-
Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin
-
(Comparative Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Hu F., Padukkavidana T., Vaegter C.B., Brady O.A., Zheng Y., Mackenzie I.R., et al. Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin. Neuron 2010, 68(4):654-667. (Comparative Study Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2010)
Neuron
, vol.68
, Issue.4
, pp. 654-667
-
-
Hu, F.1
Padukkavidana, T.2
Vaegter, C.B.3
Brady, O.A.4
Zheng, Y.5
Mackenzie, I.R.6
-
44
-
-
33644852909
-
Differential regulation of EGF receptor internalization and degradation by multiubiquitination within the kinase domain
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Huang F., Kirkpatrick D., Jiang X., Gygi S., Sorkin A. Differential regulation of EGF receptor internalization and degradation by multiubiquitination within the kinase domain. Molecular Cell 2006, 21(6):737-748. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2006)
Molecular Cell
, vol.21
, Issue.6
, pp. 737-748
-
-
Huang, F.1
Kirkpatrick, D.2
Jiang, X.3
Gygi, S.4
Sorkin, A.5
-
45
-
-
0028099774
-
Morphologic observations in iron overload: An update
-
Springer, US, C. Hershko, A. Konijn, P. Aisen (Eds.)
-
Iancu T., Shiloh H. Morphologic observations in iron overload: An update. Progress in iron research 1994, Vol. 356:255-265. Springer, US. C. Hershko, A. Konijn, P. Aisen (Eds.).
-
(1994)
Progress in iron research
, vol.356
, pp. 255-265
-
-
Iancu, T.1
Shiloh, H.2
-
46
-
-
0029147298
-
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten disease consortium
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.)
-
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten disease consortium. Cell 1995, 82(6):949-957. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S.).
-
(1995)
Cell
, vol.82
, Issue.6
, pp. 949-957
-
-
-
47
-
-
0344867852
-
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
-
(Research Support, Non-U.S. Gov't)
-
Jarvela I., Lehtovirta M., Tikkanen R., Kyttala A., Jalanko A. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL). Human Molecular Genetics 1999, 8(6):1091-1098. (Research Support, Non-U.S. Gov't).
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.6
, pp. 1091-1098
-
-
Jarvela, I.1
Lehtovirta, M.2
Tikkanen, R.3
Kyttala, A.4
Jalanko, A.5
-
48
-
-
0025039381
-
Altered elemental profiles in neuronal ceroid lipofuscinosis
-
(Research Support, Non-U.S. Gov't)
-
Johansson E., Lindh U., Westermarck T., Heiskala H., Santavuori P. Altered elemental profiles in neuronal ceroid lipofuscinosis. Journal of Trace Elements and Electrolytes in Health and Disease 1990, 4(3):139-142. (Research Support, Non-U.S. Gov't).
-
(1990)
Journal of Trace Elements and Electrolytes in Health and Disease
, vol.4
, Issue.3
, pp. 139-142
-
-
Johansson, E.1
Lindh, U.2
Westermarck, T.3
Heiskala, H.4
Santavuori, P.5
-
49
-
-
0029563691
-
Lipofuscin in bovine muscle and brain: A model for studying age pigment
-
(Research Support, U.S. Gov't, P.H.S.)
-
Jolly R.D., Douglas B.V., Davey P.M., Roiri J.E. Lipofuscin in bovine muscle and brain: A model for studying age pigment. Gerontology 1995, 41(Suppl. 2):283-295. (Research Support, U.S. Gov't, P.H.S.).
-
(1995)
Gerontology
, vol.41
, Issue.SUPPL. 2
, pp. 283-295
-
-
Jolly, R.D.1
Douglas, B.V.2
Davey, P.M.3
Roiri, J.E.4
-
50
-
-
0036668520
-
Proteomic analysis of human lysosomes: Application to monocytic and breast cancer cells
-
(Research Support, Non-U.S. Gov't)
-
Journet A., Chapel A., Kieffer S., Roux F., Garin J. Proteomic analysis of human lysosomes: Application to monocytic and breast cancer cells. Proteomics 2002, 2(8):1026-1040. (Research Support, Non-U.S. Gov't).
-
(2002)
Proteomics
, vol.2
, Issue.8
, pp. 1026-1040
-
-
Journet, A.1
Chapel, A.2
Kieffer, S.3
Roux, F.4
Garin, J.5
-
51
-
-
0033515854
-
Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases
-
(Research Support, U.S. Gov't, P.H.S.)
-
Junaid M.A., Pullarkat R.K. Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. Neuroscience Letters 1999, 264(1-3):157-160. (Research Support, U.S. Gov't, P.H.S.).
-
(1999)
Neuroscience Letters
, vol.264
, Issue.1-3
, pp. 157-160
-
-
Junaid, M.A.1
Pullarkat, R.K.2
-
52
-
-
50349083514
-
Pompe disease: A review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy
-
(Review)
-
Katzin L.W., Amato A.A. Pompe disease: A review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. Journal of Clinical Neuromuscular Disease 2008, 9(4):421-431. (Review).
-
(2008)
Journal of Clinical Neuromuscular Disease
, vol.9
, Issue.4
, pp. 421-431
-
-
Katzin, L.W.1
Amato, A.A.2
-
53
-
-
35448981935
-
Autophagy: From phenomenology to molecular understanding in less than a decade
-
(Research Support, N.I.H., Extramural Review)
-
Klionsky D.J. Autophagy: From phenomenology to molecular understanding in less than a decade. Nature Reviews. Molecular Cell Biology 2007, 8(11):931-937. (Research Support, N.I.H., Extramural Review).
-
(2007)
Nature Reviews. Molecular Cell Biology
, vol.8
, Issue.11
, pp. 931-937
-
-
Klionsky, D.J.1
-
54
-
-
1842830744
-
What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase?
-
Kominami A.E. What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase?. IUBMB Life 2002, 54(2):89-90.
-
(2002)
IUBMB Life
, vol.54
, Issue.2
, pp. 89-90
-
-
Kominami, A.E.1
-
55
-
-
77954519532
-
Redox activity within the lysosomal compartment: Implications for aging and apoptosis
-
(Review)
-
Kurz T., Eaton J.W., Brunk U.T. Redox activity within the lysosomal compartment: Implications for aging and apoptosis. Antioxidants & Redox Signaling 2010, 13(4):511-523. (Review).
-
(2010)
Antioxidants & Redox Signaling
, vol.13
, Issue.4
, pp. 511-523
-
-
Kurz, T.1
Eaton, J.W.2
Brunk, U.T.3
-
56
-
-
49349090381
-
Lysosomes and oxidative stress in aging and apoptosis
-
(Review)
-
Kurz T., Terman A., Gustafsson B., Brunk U.T. Lysosomes and oxidative stress in aging and apoptosis. Biochimica et Biophysica Acta 2008, 1780(11):1291-1303. (Review).
-
(2008)
Biochimica et Biophysica Acta
, vol.1780
, Issue.11
, pp. 1291-1303
-
-
Kurz, T.1
Terman, A.2
Gustafsson, B.3
Brunk, U.T.4
-
57
-
-
33750985356
-
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins
-
(Review)
-
Kyttala A., Lahtinen U., Braulke T., Hofmann S.L. Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. Biochimica et Biophysica Acta 2006, 1762(10):920-933. (Review).
-
(2006)
Biochimica et Biophysica Acta
, vol.1762
, Issue.10
, pp. 920-933
-
-
Kyttala, A.1
Lahtinen, U.2
Braulke, T.3
Hofmann, S.L.4
-
58
-
-
0029864225
-
Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
-
Lerer I., Merims D., Abeliovich D., Zlotogora J., Gadoth N. Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. European Journal of Human Genetics 1996, 4(1):3-7.
-
(1996)
European Journal of Human Genetics
, vol.4
, Issue.1
, pp. 3-7
-
-
Lerer, I.1
Merims, D.2
Abeliovich, D.3
Zlotogora, J.4
Gadoth, N.5
-
59
-
-
1842583789
-
Development by self-digestion: Molecular mechanisms and biological functions of autophagy
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review)
-
Levine B., Klionsky D.J. Development by self-digestion: Molecular mechanisms and biological functions of autophagy. Developmental Cell 2004, 6(4):463-477. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review).
-
(2004)
Developmental Cell
, vol.6
, Issue.4
, pp. 463-477
-
-
Levine, B.1
Klionsky, D.J.2
-
60
-
-
0032959574
-
Transferrin receptor is necessary for development of erythrocytes and the nervous system
-
(Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Levy J.E., Jin O., Fujiwara Y., Kuo F., Andrews N.C. Transferrin receptor is necessary for development of erythrocytes and the nervous system. Nature Genetics 1999, 21(4):396-399. (Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(1999)
Nature Genetics
, vol.21
, Issue.4
, pp. 396-399
-
-
Levy, J.E.1
Jin, O.2
Fujiwara, Y.3
Kuo, F.4
Andrews, N.C.5
-
61
-
-
34547134198
-
Lysosomes: Fusion and function
-
(Research Support, Non-U.S. Gov't Review)
-
Luzio J.P., Pryor P.R., Bright N.A. Lysosomes: Fusion and function. Nature Reviews. Molecular Cell Biology 2007, 8(8):622-632. (Research Support, Non-U.S. Gov't Review).
-
(2007)
Nature Reviews. Molecular Cell Biology
, vol.8
, Issue.8
, pp. 622-632
-
-
Luzio, J.P.1
Pryor, P.R.2
Bright, N.A.3
-
62
-
-
0032996131
-
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease
-
(Case Reports Letter)
-
Machaczka M., Rucinska M., Skotnicki A.B., Jurczak W. Parkinson's syndrome preceding clinical manifestation of Gaucher's disease. American Journal of Hematology 1999, 61(3):216-217. (Case Reports Letter).
-
(1999)
American Journal of Hematology
, vol.61
, Issue.3
, pp. 216-217
-
-
Machaczka, M.1
Rucinska, M.2
Skotnicki, A.B.3
Jurczak, W.4
-
63
-
-
0030679611
-
Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
(Research Support, Non-U.S. Gov't)
-
Matsumura R., Futamura N., Fujimoto Y., Yanagimoto S., Horikawa H., Suzumura A., et al. Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997, 49(5):1238-1243. (Research Support, Non-U.S. Gov't).
-
(1997)
Neurology
, vol.49
, Issue.5
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
Yanagimoto, S.4
Horikawa, H.5
Suzumura, A.6
-
64
-
-
20344402550
-
An emergency response team for membrane repair
-
(Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S. Review)
-
McNeil P.L., Kirchhausen T. An emergency response team for membrane repair. Nature Reviews. Molecular Cell Biology 2005, 6(6):499-505. (Research Support, N.I.H., Extramural Research Support, U.S. Gov't, Non-P.H.S. Research Support, U.S. Gov't, P.H.S. Review).
-
(2005)
Nature Reviews. Molecular Cell Biology
, vol.6
, Issue.6
, pp. 499-505
-
-
McNeil, P.L.1
Kirchhausen, T.2
-
65
-
-
84861336517
-
Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment
-
(Research Support, Non-U.S. Gov't)
-
Mekinian A., Stirnemann J., Belmatoug N., Heraoui D., Fantin B., Fain O., et al. Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment. Blood Cells, Molecules & Diseases 2012, 49(1):53-57. (Research Support, Non-U.S. Gov't).
-
(2012)
Blood Cells, Molecules & Diseases
, vol.49
, Issue.1
, pp. 53-57
-
-
Mekinian, A.1
Stirnemann, J.2
Belmatoug, N.3
Heraoui, D.4
Fantin, B.5
Fain, O.6
-
68
-
-
33745553895
-
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Morgan N.V., Westaway S.K., Morton J.E., Gregory A., Gissen P., Sonek S., et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics 2006, 38(7):752-754. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2006)
Nature Genetics
, vol.38
, Issue.7
, pp. 752-754
-
-
Morgan, N.V.1
Westaway, S.K.2
Morton, J.E.3
Gregory, A.4
Gissen, P.5
Sonek, S.6
-
69
-
-
0030802359
-
Endocytosis
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review)
-
Mukherjee S., Ghosh R.N., Maxfield F.R. Endocytosis. Physiological Reviews 1997, 77(3):759-803. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review).
-
(1997)
Physiological Reviews
, vol.77
, Issue.3
, pp. 759-803
-
-
Mukherjee, S.1
Ghosh, R.N.2
Maxfield, F.R.3
-
71
-
-
8344247016
-
Autophagy defends cells against invading group a streptococcus
-
(Research Support, Non-U.S. Gov't)
-
Nakagawa I., Amano A., Mizushima N., Yamamoto A., Yamaguchi H., Kamimoto T., et al. Autophagy defends cells against invading group a streptococcus. Science 2004, 306(5698):1037-1040. (Research Support, Non-U.S. Gov't).
-
(2004)
Science
, vol.306
, Issue.5698
, pp. 1037-1040
-
-
Nakagawa, I.1
Amano, A.2
Mizushima, N.3
Yamamoto, A.4
Yamaguchi, H.5
Kamimoto, T.6
-
72
-
-
33845293272
-
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase
-
Narayan S.B., Rakheja D., Tan L., Pastor J.V., Bennett M.J. CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase. Annals of Neurology 2006, 60(5):570-577.
-
(2006)
Annals of Neurology
, vol.60
, Issue.5
, pp. 570-577
-
-
Narayan, S.B.1
Rakheja, D.2
Tan, L.3
Pastor, J.V.4
Bennett, M.J.5
-
73
-
-
33750133047
-
Regulation of iron metabolism by hepcidin
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review)
-
Nemeth E., Ganz T. Regulation of iron metabolism by hepcidin. Annual Review of Nutrition 2006, 26:323-342. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review).
-
(2006)
Annual Review of Nutrition
, vol.26
, pp. 323-342
-
-
Nemeth, E.1
Ganz, T.2
-
74
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
(Research Support, Non-U.S. Gov't)
-
Neudorfer O., Giladi N., Elstein D., Abrahamov A., Turezkite T., Aghai E., et al. Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM: Monthly Journal of the Association of Physicians 1996, 89(9):691-694. (Research Support, Non-U.S. Gov't).
-
(1996)
QJM: Monthly Journal of the Association of Physicians
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Aghai, E.6
-
75
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J., Bras J., Deas E., O'Sullivan S.S., Parkkinen L., Lachmann R.H., et al. Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain 2009, 132(Pt 7):1783-1794.
-
(2009)
Brain
, vol.132
, Issue.PART 7
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
O'Sullivan, S.S.4
Parkkinen, L.5
Lachmann, R.H.6
-
76
-
-
19944432606
-
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
-
(Multicenter Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Nichols W.C., Pankratz N., Hernandez D., Paisan-Ruiz C., Jain S., Halter C.A., et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005, 365(9457):410-412. (Multicenter Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(2005)
Lancet
, vol.365
, Issue.9457
, pp. 410-412
-
-
Nichols, W.C.1
Pankratz, N.2
Hernandez, D.3
Paisan-Ruiz, C.4
Jain, S.5
Halter, C.A.6
-
77
-
-
48249103491
-
Neurodegenerative lysosomal disorders: A continuum from development to late age
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review)
-
Nixon R.A., Yang D.S., Lee J.H. Neurodegenerative lysosomal disorders: A continuum from development to late age. Autophagy 2008, 4(5):590-599. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review).
-
(2008)
Autophagy
, vol.4
, Issue.5
, pp. 590-599
-
-
Nixon, R.A.1
Yang, D.S.2
Lee, J.H.3
-
78
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
(Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't)
-
Paisan-Ruiz C., Bhatia K.P., Li A., Hernandez D., Davis M., Wood N.W., et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Annals of Neurology 2009, 65(1):19-23. (Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't).
-
(2009)
Annals of Neurology
, vol.65
, Issue.1
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
Hernandez, D.4
Davis, M.5
Wood, N.W.6
-
79
-
-
0026539541
-
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)
-
(Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Palmer D.N., Fearnley I.M., Walker J.E., Hall N.A., Lake B.D., Wolfe L.S., et al. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease). American Journal of Medical Genetics 1992, 42(4):561-567. (Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(1992)
American Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 561-567
-
-
Palmer, D.N.1
Fearnley, I.M.2
Walker, J.E.3
Hall, N.A.4
Lake, B.D.5
Wolfe, L.S.6
-
80
-
-
0030845481
-
Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)
-
(Research Support, U.S. Gov't, P.H.S.)
-
Palmer D.N., Jolly R.D., van Mil H.C., Tyynela J., Westlake V.J. Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease). Neuropediatrics 1997, 28(1):45-48. (Research Support, U.S. Gov't, P.H.S.).
-
(1997)
Neuropediatrics
, vol.28
, Issue.1
, pp. 45-48
-
-
Palmer, D.N.1
Jolly, R.D.2
van Mil, H.C.3
Tyynela, J.4
Westlake, V.J.5
-
81
-
-
18544390923
-
Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype
-
(Research Support, Non-U.S. Gov't)
-
Paloneva J., Manninen T., Christman G., Hovanes K., Mandelin J., Adolfsson R., et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. American Journal of Human Genetics 2002, 71(3):656-662. (Research Support, Non-U.S. Gov't).
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.3
, pp. 656-662
-
-
Paloneva, J.1
Manninen, T.2
Christman, G.3
Hovanes, K.4
Mandelin, J.5
Adolfsson, R.6
-
82
-
-
0017188972
-
Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload
-
Peters T.J., Seymour C.A. Acid hydrolase activities and lysosomal integrity in liver biopsies from patients with iron overload. Clinical Science and Molecular Medicine 1976, 50(1):75-78.
-
(1976)
Clinical Science and Molecular Medicine
, vol.50
, Issue.1
, pp. 75-78
-
-
Peters, T.J.1
Seymour, C.A.2
-
83
-
-
0034729167
-
The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles
-
(Research Support, Non-U.S. Gov't)
-
Pryor P.R., Mullock B.M., Bright N.A., Gray S.R., Luzio J.P. The role of intraorganellar Ca(2+) in late endosome-lysosome heterotypic fusion and in the reformation of lysosomes from hybrid organelles. The Journal of Cell Biology 2000, 149(5):1053-1062. (Research Support, Non-U.S. Gov't).
-
(2000)
The Journal of Cell Biology
, vol.149
, Issue.5
, pp. 1053-1062
-
-
Pryor, P.R.1
Mullock, B.M.2
Bright, N.A.3
Gray, S.R.4
Luzio, J.P.5
-
84
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
(Research Support, Non-U.S. Gov't)
-
Ramirez A., Heimbach A., Grundemann J., Stiller B., Hampshire D., Cid L.P., et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nature Genetics 2006, 38(10):1184-1191. (Research Support, Non-U.S. Gov't).
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
Stiller, B.4
Hampshire, D.5
Cid, L.P.6
-
85
-
-
28744438595
-
Defective lysosomal arginine transport in juvenile Batten disease
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Ramirez-Montealegre D., Pearce D.A. Defective lysosomal arginine transport in juvenile Batten disease. Human Molecular Genetics 2005, 14(23):3759-3773. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.23
, pp. 3759-3773
-
-
Ramirez-Montealegre, D.1
Pearce, D.A.2
-
86
-
-
0031567095
-
The molecular mechanisms of the metabolism and transport of iron in normal and neoplastic cells
-
(Research Support, Non-U.S. Gov't Review)
-
Richardson D.R., Ponka P. The molecular mechanisms of the metabolism and transport of iron in normal and neoplastic cells. Biochimica et Biophysica Acta 1997, 1331(1):1-40. (Research Support, Non-U.S. Gov't Review).
-
(1997)
Biochimica et Biophysica Acta
, vol.1331
, Issue.1
, pp. 1-40
-
-
Richardson, D.R.1
Ponka, P.2
-
87
-
-
0030615262
-
Lysosomes behave as Ca2+-regulated exocytic vesicles in fibroblasts and epithelial cells
-
(Research Support, U.S. Gov't, P.H.S.)
-
Rodriguez A., Webster P., Ortego J., Andrews N.W. Lysosomes behave as Ca2+-regulated exocytic vesicles in fibroblasts and epithelial cells. The Journal of Cell Biology 1997, 137(1):93-104. (Research Support, U.S. Gov't, P.H.S.).
-
(1997)
The Journal of Cell Biology
, vol.137
, Issue.1
, pp. 93-104
-
-
Rodriguez, A.1
Webster, P.2
Ortego, J.3
Andrews, N.W.4
-
88
-
-
33746361251
-
The role of iron regulatory proteins in mammalian iron homeostasis and disease
-
(Research Support, N.I.H., Intramural Review)
-
Rouault T.A. The role of iron regulatory proteins in mammalian iron homeostasis and disease. Nature Chemical Biology 2006, 2(8):406-414. (Research Support, N.I.H., Intramural Review).
-
(2006)
Nature Chemical Biology
, vol.2
, Issue.8
, pp. 406-414
-
-
Rouault, T.A.1
-
89
-
-
70749120467
-
Progranulin is expressed within motor neurons and promotes neuronal cell survival
-
(Research Support, Non-U.S. Gov't)
-
Ryan C.L., Baranowski D.C., Chitramuthu B.P., Malik S., Li Z., Cao M., et al. Progranulin is expressed within motor neurons and promotes neuronal cell survival. BMC Neuroscience 2009, 10:130. (Research Support, Non-U.S. Gov't).
-
(2009)
BMC Neuroscience
, vol.10
, pp. 130
-
-
Ryan, C.L.1
Baranowski, D.C.2
Chitramuthu, B.P.3
Malik, S.4
Li, Z.5
Cao, M.6
-
90
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
(Research Support, Non-U.S. Gov't)
-
Sanpei K., Takano H., Igarashi S., Sato T., Oyake M., Sasaki H., et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genetics 1996, 14(3):277-284. (Research Support, Non-U.S. Gov't).
-
(1996)
Nature Genetics
, vol.14
, Issue.3
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
-
91
-
-
33646356745
-
The CLN9 protein, a regulator of dihydroceramide synthase
-
(Research Support, Non-U.S. Gov't)
-
Schulz A., Mousallem T., Venkataramani M., Persaud-Sawin D.A., Zucker A., Luberto C., et al. The CLN9 protein, a regulator of dihydroceramide synthase. The Journal of Biological Chemistry 2006, 281(5):2784-2794. (Research Support, Non-U.S. Gov't).
-
(2006)
The Journal of Biological Chemistry
, vol.281
, Issue.5
, pp. 2784-2794
-
-
Schulz, A.1
Mousallem, T.2
Venkataramani, M.3
Persaud-Sawin, D.A.4
Zucker, A.5
Luberto, C.6
-
93
-
-
33344469599
-
You say lipofuscin, we say ceroid: Defining autofluorescent storage material
-
(Research Support, N.I.H., Extramural Review)
-
Seehafer S.S., Pearce D.A. You say lipofuscin, we say ceroid: Defining autofluorescent storage material. Neurobiology of Aging 2006, 27(4):576-588. (Research Support, N.I.H., Extramural Review).
-
(2006)
Neurobiology of Aging
, vol.27
, Issue.4
, pp. 576-588
-
-
Seehafer, S.S.1
Pearce, D.A.2
-
94
-
-
0018860041
-
Studies on the concentration and intracellular localization of iron proteins in liver biopsy specimens from patients with iron overload with special reference to their role in lysosomal disruption
-
Selden C., Owen M., Hopkins J.M., Peters T.J. Studies on the concentration and intracellular localization of iron proteins in liver biopsy specimens from patients with iron overload with special reference to their role in lysosomal disruption. British Journal of Haematology 1980, 44(4):593-603.
-
(1980)
British Journal of Haematology
, vol.44
, Issue.4
, pp. 593-603
-
-
Selden, C.1
Owen, M.2
Hopkins, J.M.3
Peters, T.J.4
-
95
-
-
0018114375
-
Organelle pathology in primary and secondary haemochromatosis with special reference to lysosomal changes
-
Seymour C.A., Peters T.J. Organelle pathology in primary and secondary haemochromatosis with special reference to lysosomal changes. British Journal of Haematology 1978, 40(2):239-253.
-
(1978)
British Journal of Haematology
, vol.40
, Issue.2
, pp. 239-253
-
-
Seymour, C.A.1
Peters, T.J.2
-
96
-
-
49449107497
-
Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients
-
Shapiro B.E., Logigian E.L., Kolodny E.H., Pastores G.M. Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients. Muscle & Nerve 2008, 38(2):1012-1015.
-
(2008)
Muscle & Nerve
, vol.38
, Issue.2
, pp. 1012-1015
-
-
Shapiro, B.E.1
Logigian, E.L.2
Kolodny, E.H.3
Pastores, G.M.4
-
97
-
-
34648828230
-
Molecular mechanisms involved in intestinal iron absorption
-
(Research Support, Non-U.S. Gov't Review)
-
Sharp P., Srai S.K. Molecular mechanisms involved in intestinal iron absorption. World Journal of Gastroenterology 2007, 13(35):4716-4724. (Research Support, Non-U.S. Gov't Review).
-
(2007)
World Journal of Gastroenterology
, vol.13
, Issue.35
, pp. 4716-4724
-
-
Sharp, P.1
Srai, S.K.2
-
98
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E., Nalls M.A., Aasly J.O., Aharon-Peretz J., Annesi G., Barbosa E.R., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. The New England Journal of Medicine 2009, 361(17):1651-1661.
-
(2009)
The New England Journal of Medicine
, vol.361
, Issue.17
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.A.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
-
99
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
(Case Reports Research Support, Non-U.S. Gov't)
-
Siintola E., Partanen S., Stromme P., Haapanen A., Haltia M., Maehlen J., et al. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain: A Journal of Neurology 2006, 129(Pt 6):1438-1445. (Case Reports Research Support, Non-U.S. Gov't).
-
(2006)
Brain: A Journal of Neurology
, vol.129
, Issue.PART 6
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Stromme, P.3
Haapanen, A.4
Haltia, M.5
Maehlen, J.6
-
100
-
-
84862134180
-
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage
-
(Research Support, Non-U.S. Gov't)
-
Smith K.R., Damiano J., Franceschetti S., Carpenter S., Canafoglia L., Morbin M., et al. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. American Journal of Human Genetics 2012, 90(6):1102-1107. (Research Support, Non-U.S. Gov't).
-
(2012)
American Journal of Human Genetics
, vol.90
, Issue.6
, pp. 1102-1107
-
-
Smith, K.R.1
Damiano, J.2
Franceschetti, S.3
Carpenter, S.4
Canafoglia, L.5
Morbin, M.6
-
101
-
-
0029878024
-
Homozygosity for Machado-Joseph disease gene enhances phenotypic severity
-
(Case Reports Letter)
-
Sobue G., Doyu M., Nakao N., Shimada N., Mitsuma T., Maruyama H., et al. Homozygosity for Machado-Joseph disease gene enhances phenotypic severity. Journal of Neurology, Neurosurgery, and Psychiatry 1996, 60(3):354-356. (Case Reports Letter).
-
(1996)
Journal of Neurology, Neurosurgery, and Psychiatry
, vol.60
, Issue.3
, pp. 354-356
-
-
Sobue, G.1
Doyu, M.2
Nakao, N.3
Shimada, N.4
Mitsuma, T.5
Maruyama, H.6
-
102
-
-
33745280137
-
High incidence of later-onset fabry disease revealed by newborn screening
-
(Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G., Sakuraba H., et al. High incidence of later-onset fabry disease revealed by newborn screening. American Journal of Human Genetics 2006, 79(1):31-40. (Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.1
, pp. 31-40
-
-
Spada, M.1
Pagliardini, S.2
Yasuda, M.3
Tukel, T.4
Thiagarajan, G.5
Sakuraba, H.6
-
103
-
-
84863985738
-
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
-
(Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't)
-
Staropoli J.F., Karaa A., Lim E.T., Kirby A., Elbalalesy N., Romansky S.G., et al. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. American Journal of Human Genetics 2012, 91(1):202-208. (Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't).
-
(2012)
American Journal of Human Genetics
, vol.91
, Issue.1
, pp. 202-208
-
-
Staropoli, J.F.1
Karaa, A.2
Lim, E.T.3
Kirby, A.4
Elbalalesy, N.5
Romansky, S.G.6
-
104
-
-
34247500821
-
TREM2-transduced myeloid precursors mediate nervous tissue debris clearance and facilitate recovery in an animal model of multiple sclerosis
-
(Research Support, Non-U.S. Gov't)
-
Takahashi K., Prinz M., Stagi M., Chechneva O., Neumann H. TREM2-transduced myeloid precursors mediate nervous tissue debris clearance and facilitate recovery in an animal model of multiple sclerosis. PLoS Medicine 2007, 4(4):e124. (Research Support, Non-U.S. Gov't).
-
(2007)
PLoS Medicine
, vol.4
, Issue.4
-
-
Takahashi, K.1
Prinz, M.2
Stagi, M.3
Chechneva, O.4
Neumann, H.5
-
105
-
-
0030964780
-
A novel cytosolic calcium-independent phospholipase A2 contains eight ankyrin motifs
-
Tang J., Kriz R.W., Wolfman N., Shaffer M., Seehra J., Jones S.S. A novel cytosolic calcium-independent phospholipase A2 contains eight ankyrin motifs. The Journal of Biological Chemistry 1997, 272(13):8567-8575.
-
(1997)
The Journal of Biological Chemistry
, vol.272
, Issue.13
, pp. 8567-8575
-
-
Tang, J.1
Kriz, R.W.2
Wolfman, N.3
Shaffer, M.4
Seehra, J.5
Jones, S.S.6
-
106
-
-
33846702991
-
Autophagy, organelles and ageing
-
(Review)
-
Terman A., Gustafsson B., Brunk U.T. Autophagy, organelles and ageing. The Journal of Pathology 2007, 211(2):134-143. (Review).
-
(2007)
The Journal of Pathology
, vol.211
, Issue.2
, pp. 134-143
-
-
Terman, A.1
Gustafsson, B.2
Brunk, U.T.3
-
107
-
-
34447522241
-
Mutation of a potassium channel-related gene in progressive myoclonic epilepsy
-
(Research Support, Non-U.S. Gov't)
-
Van Bogaert P., Azizieh R., Desir J., Aeby A., De Meirleir L., Laes J.F., et al. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Annals of Neurology 2007, 61(6):579-586. (Research Support, Non-U.S. Gov't).
-
(2007)
Annals of Neurology
, vol.61
, Issue.6
, pp. 579-586
-
-
Van Bogaert, P.1
Azizieh, R.2
Desir, J.3
Aeby, A.4
De Meirleir, L.5
Laes, J.F.6
-
108
-
-
51449089054
-
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
-
(Review)
-
van Swieten J.C., Heutink P. Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia. Lancet Neurology 2008, 7(10):965-974. (Review).
-
(2008)
Lancet Neurology
, vol.7
, Issue.10
, pp. 965-974
-
-
van Swieten, J.C.1
Heutink, P.2
-
110
-
-
80052028927
-
Exploring the link between glucocerebrosidase mutations and parkinsonism
-
(Research Support, N.I.H., Intramural Review)
-
Westbroek W., Gustafson A.M., Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends in Molecular Medicine 2011, 17(9):485-493. (Research Support, N.I.H., Intramural Review).
-
(2011)
Trends in Molecular Medicine
, vol.17
, Issue.9
, pp. 485-493
-
-
Westbroek, W.1
Gustafson, A.M.2
Sidransky, E.3
-
111
-
-
55449112725
-
Control of parasitophorous vacuole expansion by LYST/Beige restricts the intracellular growth of Leishmania amazonensis
-
(Research Support, N.I.H., Extramural)
-
Wilson J., Huynh C., Kennedy K.A., Ward D.M., Kaplan J., Aderem A., et al. Control of parasitophorous vacuole expansion by LYST/Beige restricts the intracellular growth of Leishmania amazonensis. PLoS Pathogens 2008, 4(10):e1000179. (Research Support, N.I.H., Extramural).
-
(2008)
PLoS Pathogens
, vol.4
, Issue.10
-
-
Wilson, J.1
Huynh, C.2
Kennedy, K.A.3
Ward, D.M.4
Kaplan, J.5
Aderem, A.6
-
112
-
-
0036303882
-
Lysosomal disorders
-
(Review)
-
Wraith J.E. Lysosomal disorders. Seminars in Neonatology 2002, 7(1):75-83. (Review).
-
(2002)
Seminars in Neonatology
, vol.7
, Issue.1
, pp. 75-83
-
-
Wraith, J.E.1
-
113
-
-
0037448105
-
Intralysosomal iron: A major determinant of oxidant-induced cell death
-
(Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.)
-
Yu Z., Persson H.L., Eaton J.W., Brunk U.T. Intralysosomal iron: A major determinant of oxidant-induced cell death. Free Radical Biology & Medicine 2003, 34(10):1243-1252. (Comparative Study Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.).
-
(2003)
Free Radical Biology & Medicine
, vol.34
, Issue.10
, pp. 1243-1252
-
-
Yu, Z.1
Persson, H.L.2
Eaton, J.W.3
Brunk, U.T.4
-
114
-
-
77955871827
-
Lysosomal proteolysis is the primary degradation pathway for cytosolic ferritin and cytosolic ferritin degradation is necessary for iron exit
-
(Research Support, Non-U.S. Gov't)
-
Zhang Y., Mikhael M., Xu D., Li Y., Soe-Lin S., Ning B., et al. Lysosomal proteolysis is the primary degradation pathway for cytosolic ferritin and cytosolic ferritin degradation is necessary for iron exit. Antioxidants & Redox Signaling 2010, 13(7):999-1009. (Research Support, Non-U.S. Gov't).
-
(2010)
Antioxidants & Redox Signaling
, vol.13
, Issue.7
, pp. 999-1009
-
-
Zhang, Y.1
Mikhael, M.2
Xu, D.3
Li, Y.4
Soe-Lin, S.5
Ning, B.6
|