-
1
-
-
33745261734
-
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly
-
Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, et al. (2006) Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. Journal of medical genetics 43: 490-495.
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 490-495
-
-
Breedveld, G.1
de Coo, I.F.2
Lequin, M.H.3
Arts, W.F.4
Heutink, P.5
-
2
-
-
0016295763
-
Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina
-
Farber DB, Lolley RN, (1974) Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science 186: 449-451.
-
(1974)
Science
, vol.186
, pp. 449-451
-
-
Farber, D.B.1
Lolley, R.N.2
-
3
-
-
21044442223
-
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
-
Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, et al. (2005) Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308: 1167-1171.
-
(2005)
Science
, vol.308
, pp. 1167-1171
-
-
Gould, D.B.1
Phalan, F.C.2
Breedveld, G.J.3
van Mil, S.E.4
Smith, R.S.5
-
4
-
-
33645498692
-
Role of COL4A1 in small-vessel disease and hemorrhagic stroke
-
Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, et al. (2006) Role of COL4A1 in small-vessel disease and hemorrhagic stroke. The New England journal of medicine 354: 1489-1496.
-
(2006)
The New England Journal of Medicine
, vol.354
, pp. 1489-1496
-
-
Gould, D.B.1
Phalan, F.C.2
van Mil, S.E.3
Sundberg, J.P.4
Vahedi, K.5
-
5
-
-
0000087516
-
The Inheritance of a Retinal Abnormality in White Mice
-
Keeler CE, (1924) The Inheritance of a Retinal Abnormality in White Mice. Proc Natl Acad Sci U S A 10: 329-333.
-
(1924)
Proc Natl Acad Sci U S A
, vol.10
, pp. 329-333
-
-
Keeler, C.E.1
-
6
-
-
77955173802
-
COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review
-
Lanfranconi S, Markus HS, (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke; a journal of cerebral circulation 41: e513-518.
-
(2010)
Stroke; a Journal of Cerebral Circulation
, vol.41
-
-
Lanfranconi, S.1
Markus, H.S.2
-
7
-
-
0027270053
-
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
-
McLaughlin ME, Sandberg MA, Berson EL, Dryja TP, (1993) Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet 4: 130-134.
-
(1993)
Nat Genet
, vol.4
, pp. 130-134
-
-
McLaughlin, M.E.1
Sandberg, M.A.2
Berson, E.L.3
Dryja, T.P.4
-
8
-
-
0026072333
-
Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse
-
Pittler SJ, Baehr W, (1991) Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse. Proc Natl Acad Sci U S A 88: 8322-8326.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 8322-8326
-
-
Pittler, S.J.1
Baehr, W.2
-
9
-
-
0027363757
-
PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect
-
Pittler SJ, Keeler CE, Sidman RL, Baehr W, (1993) PCR analysis of DNA from 70-year-old sections of rodless retina demonstrates identity with the mouse rd defect. Proc Natl Acad Sci U S A 90: 9616-9619.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 9616-9619
-
-
Pittler, S.J.1
Keeler, C.E.2
Sidman, R.L.3
Baehr, W.4
-
10
-
-
0002242647
-
Retinal degeneration in the mouse: location of the RD locus in linkage group XVII
-
Sidman RL, Green MC, (1965) Retinal degeneration in the mouse: location of the RD locus in linkage group XVII. J Hered 56: 23-29.
-
(1965)
J Hered
, vol.56
, pp. 23-29
-
-
Sidman, R.L.1
Green, M.C.2
-
12
-
-
0026785566
-
Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse
-
Carroll EW, Curtis RL, Sullivan DA, Melvin JL, (1992) Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. Brain Res Bull 29: 411-418.
-
(1992)
Brain Res Bull
, vol.29
, pp. 411-418
-
-
Carroll, E.W.1
Curtis, R.L.2
Sullivan, D.A.3
Melvin, J.L.4
-
13
-
-
0014117790
-
The wabbler-lethal mouse. An electron microscopic study of the nervous system
-
Luse SA, Chenard C, Finke EH, (1967) The wabbler-lethal mouse. An electron microscopic study of the nervous system. Archives of Neurology 17: 153-161.
-
(1967)
Archives of Neurology
, vol.17
, pp. 153-161
-
-
Luse, S.A.1
Chenard, C.2
Finke, E.H.3
-
14
-
-
0026857716
-
Genetic and age related models of neurodegeneration in mice: dystrophic axons
-
Bronson RT, Sweet HO, Spencer CA, Davisson MT, (1992) Genetic and age related models of neurodegeneration in mice: dystrophic axons. J Neurogenet 8: 71-83.
-
(1992)
J Neurogenet
, vol.8
, pp. 71-83
-
-
Bronson, R.T.1
Sweet, H.O.2
Spencer, C.A.3
Davisson, M.T.4
-
15
-
-
0011373089
-
Genetically Controlled Demyelination in the Mammalian Central Nervous System: Demyelination in Mammals
-
Harman PJ, (1954) Genetically Controlled Demyelination in the Mammalian Central Nervous System: Demyelination in Mammals. Annals of the New York Academy of Sciences 58: 546-550.
-
(1954)
Annals of the New York Academy of Sciences
, vol.58
, pp. 546-550
-
-
Harman, P.J.1
-
17
-
-
0024428392
-
Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis
-
Mizusawa H, Matsumoto S, Yen SH, Hirano A, Rojas-Corona RR, et al. (1989) Focal accumulation of phosphorylated neurofilaments within anterior horn cell in familial amyotrophic lateral sclerosis. Acta Neuropathologica 79: 37-43.
-
(1989)
Acta Neuropathologica
, vol.79
, pp. 37-43
-
-
Mizusawa, H.1
Matsumoto, S.2
Yen, S.H.3
Hirano, A.4
Rojas-Corona, R.R.5
-
18
-
-
38349070853
-
Retinal Ganglion Cells Downregulate Gene Expression and Lose Their Axons within the Optic Nerve Head in a Mouse Glaucoma Model
-
Soto I, Oglesby E, Buckingham BP, Son JL, Roberson EDO, et al. (2008) Retinal Ganglion Cells Downregulate Gene Expression and Lose Their Axons within the Optic Nerve Head in a Mouse Glaucoma Model. Journal of Neuroscience 28: 548-561.
-
(2008)
Journal of Neuroscience
, vol.28
, pp. 548-561
-
-
Soto, I.1
Oglesby, E.2
Buckingham, B.P.3
Son, J.L.4
Roberson, E.D.O.5
-
19
-
-
15444363036
-
High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma
-
Anderson MG, Libby RT, Gould DB, Smith RS, John SW, (2005) High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci U S A 102: 4566-4571.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 4566-4571
-
-
Anderson, M.G.1
Libby, R.T.2
Gould, D.B.3
Smith, R.S.4
John, S.W.5
-
20
-
-
27544501965
-
Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration
-
Libby RT, Anderson MG, Pang IH, Robinson ZH, Savinova OV, et al. (2005) Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. Vis Neurosci 22: 637-648.
-
(2005)
Vis Neurosci
, vol.22
, pp. 637-648
-
-
Libby, R.T.1
Anderson, M.G.2
Pang, I.H.3
Robinson, Z.H.4
Savinova, O.V.5
-
21
-
-
77955614345
-
Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage
-
Libby RT, Li Y, Savinova OV, Barter J, Smith RS, et al. (2005) Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet 1.
-
(2005)
PLoS Genet
, vol.1
-
-
Libby, R.T.1
Li, Y.2
Savinova, O.V.3
Barter, J.4
Smith, R.S.5
-
23
-
-
15444365951
-
General and Specific Histopathology
-
In: Smith RS, editor, New York: CRC Press
-
Smith RS, Zabaleta A, John SW, Bechtold LS, Ikeda S,et al. (2002) General and Specific Histopathology. In: Smith RS, editor. Systemic evaluation of the mouse eye. New York: CRC Press. pp. 265-297.
-
(2002)
Systemic evaluation of the mouse eye
, pp. 265-297
-
-
Smith, R.S.1
Zabaleta, A.2
John, S.W.3
Bechtold, L.S.4
Ikeda, S.5
-
24
-
-
78649419017
-
Wld(S), Nmnats and axon degeneration-progress in the past two decades
-
Feng Y, Yan T, He Z, Zhai Q, (2010) Wld(S), Nmnats and axon degeneration-progress in the past two decades. Protein & cell 1: 237-245.
-
(2010)
Protein & Cell
, vol.1
, pp. 237-245
-
-
Feng, Y.1
Yan, T.2
He, Z.3
Zhai, Q.4
-
25
-
-
0344950387
-
Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease
-
Ferri A, Sanes JR, Coleman MP, Cunningham JM, Kato AC, (2003) Inhibiting axon degeneration and synapse loss attenuates apoptosis and disease progression in a mouse model of motoneuron disease. Curr Biol 13: 669-673.
-
(2003)
Curr Biol
, vol.13
, pp. 669-673
-
-
Ferri, A.1
Sanes, J.R.2
Coleman, M.P.3
Cunningham, J.M.4
Kato, A.C.5
-
26
-
-
0024373441
-
Absence of Wallerian Degeneration does not Hinder Regeneration in Peripheral Nerve
-
Lunn ER, Perry VH, Brown MC, Rosen H, Gordon S, (1989) Absence of Wallerian Degeneration does not Hinder Regeneration in Peripheral Nerve. Eur J Neurosci 1: 27-33.
-
(1989)
Eur J Neurosci
, vol.1
, pp. 27-33
-
-
Lunn, E.R.1
Perry, V.H.2
Brown, M.C.3
Rosen, H.4
Gordon, S.5
-
27
-
-
0035195636
-
Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene
-
Mack TG, Reiner M, Beirowski B, Mi W, Emanuelli M, et al. (2001) Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene. Nature Neuroscience 4: 1199-1206.
-
(2001)
Nature Neuroscience
, vol.4
, pp. 1199-1206
-
-
Mack, T.G.1
Reiner, M.2
Beirowski, B.3
Mi, W.4
Emanuelli, M.5
-
28
-
-
0025110838
-
Evidence that Very Slow Wallerian Degeneration in C57BL/Ola Mice is an Intrinsic Property of the Peripheral Nerve
-
Perry VH, Brown MC, Lunn ER, Tree P, Gordon S, (1990) Evidence that Very Slow Wallerian Degeneration in C57BL/Ola Mice is an Intrinsic Property of the Peripheral Nerve. Eur J Neurosci 2: 802-808.
-
(1990)
Eur J Neurosci
, vol.2
, pp. 802-808
-
-
Perry, V.H.1
Brown, M.C.2
Lunn, E.R.3
Tree, P.4
Gordon, S.5
-
29
-
-
0025316350
-
Evidence that the Rate of Wallerian Degeneration is Controlled by a Single Autosomal Dominant Gene
-
Perry VH, Lunn ER, Brown MC, Cahusac S, Gordon S, (1990) Evidence that the Rate of Wallerian Degeneration is Controlled by a Single Autosomal Dominant Gene. Eur J Neurosci 2: 408-413.
-
(1990)
Eur J Neurosci
, vol.2
, pp. 408-413
-
-
Perry, V.H.1
Lunn, E.R.2
Brown, M.C.3
Cahusac, S.4
Gordon, S.5
-
30
-
-
0029017570
-
Persistence of neuromuscular junctions after axotomy in mice with slow Wallerian degeneration (C57BL/WldS)
-
Ribchester RR, Tsao JW, Barry JA, Asgari-Jirhandeh N, Perry VH, et al. (1995) Persistence of neuromuscular junctions after axotomy in mice with slow Wallerian degeneration (C57BL/WldS). Eur J Neurosci 7: 1641-1650.
-
(1995)
Eur J Neurosci
, vol.7
, pp. 1641-1650
-
-
Ribchester, R.R.1
Tsao, J.W.2
Barry, J.A.3
Asgari-Jirhandeh, N.4
Perry, V.H.5
-
31
-
-
60549089207
-
APP binds DR6 to trigger axon pruning and neuron death via distinct caspases
-
Nikolaev A, McLaughlin T, O'Leary DD, Tessier-Lavigne M, (2009) APP binds DR6 to trigger axon pruning and neuron death via distinct caspases. Nature 457: 981-989.
-
(2009)
Nature
, vol.457
, pp. 981-989
-
-
Nikolaev, A.1
McLaughlin, T.2
O'Leary, D.D.3
Tessier-Lavigne, M.4
-
32
-
-
77951870448
-
Axonal degeneration is regulated by the apoptotic machinery or a NAD+-sensitive pathway in insects and mammals
-
Schoenmann Z, Assa-Kunik E, Tiomny S, Minis A, Haklai-Topper L, et al. (2010) Axonal degeneration is regulated by the apoptotic machinery or a NAD+-sensitive pathway in insects and mammals. J Neurosci 30: 6375-6386.
-
(2010)
J Neurosci
, vol.30
, pp. 6375-6386
-
-
Schoenmann, Z.1
Assa-Kunik, E.2
Tiomny, S.3
Minis, A.4
Haklai-Topper, L.5
-
33
-
-
77957212551
-
Linkage of wabbler-lethal and hairless in the mouse
-
Lane PW, Dickie MM, (1961) Linkage of wabbler-lethal and hairless in the mouse. Journal of Heredity 52: 2.
-
(1961)
Journal of Heredity
, vol.52
, pp. 2
-
-
Lane, P.W.1
Dickie, M.M.2
-
34
-
-
0028945286
-
A Chinese hamster ovary cell mutant defective in the non-endocytic uptake of fluorescent analogs of phosphatidylserine: isolation using a cytosol acidification protocol
-
Hanada K, Pagano RE, (1995) A Chinese hamster ovary cell mutant defective in the non-endocytic uptake of fluorescent analogs of phosphatidylserine: isolation using a cytosol acidification protocol. J Cell Biol 128: 793-804.
-
(1995)
J Cell Biol
, vol.128
, pp. 793-804
-
-
Hanada, K.1
Pagano, R.E.2
-
35
-
-
38649113883
-
ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity
-
Paulusma CC, Folmer DE, Ho-Mok KS, de Waart DR, Hilarius PM, et al. (2008) ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology 47: 268-278.
-
(2008)
Hepatology
, vol.47
, pp. 268-278
-
-
Paulusma, C.C.1
Folmer, D.E.2
Ho-Mok, K.S.3
de Waart, D.R.4
Hilarius, P.M.5
-
36
-
-
38049075806
-
Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma
-
Howell GR, Libby RT, Jakobs TC, Smith RS, Phalan FC, et al. (2007) Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol 179: 1523-1537.
-
(2007)
J Cell Biol
, vol.179
, pp. 1523-1537
-
-
Howell, G.R.1
Libby, R.T.2
Jakobs, T.C.3
Smith, R.S.4
Phalan, F.C.5
-
37
-
-
79751528889
-
The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration
-
Meyer zu Horste G, Miesbach TA, Muller JI, Fledrich R, Stassart RM, et al. (2011) The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration. Neurobiol Dis 42: 1-8.
-
(2011)
Neurobiol Dis
, vol.42
, pp. 1-8
-
-
Meyer zu Horste, G.1
Miesbach, T.A.2
Muller, J.I.3
Fledrich, R.4
Stassart, R.M.5
-
38
-
-
13544273848
-
The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice
-
Mi W, Beirowski B, Gillingwater TH, Adalbert R, Wagner D, et al. (2005) The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice. Brain 128: 405-416.
-
(2005)
Brain
, vol.128
, pp. 405-416
-
-
Mi, W.1
Beirowski, B.2
Gillingwater, T.H.3
Adalbert, R.4
Wagner, D.5
-
39
-
-
0025974211
-
Very Slow Retrograde and Wallerian Degeneration in the CNS of C57BL/Ola Mice
-
Perry VH, Brown MC, Lunn ER, (1991) Very Slow Retrograde and Wallerian Degeneration in the CNS of C57BL/Ola Mice. Eur J Neurosci 3: 102-105.
-
(1991)
Eur J Neurosci
, vol.3
, pp. 102-105
-
-
Perry, V.H.1
Brown, M.C.2
Lunn, E.R.3
-
40
-
-
0029992825
-
A Subfamily of P-Type ATPases with Aminophospholipid Transporting Activity
-
Tang X, Halleck MS, Schlegel RA, Williamson P, (1996) A Subfamily of P-Type ATPases with Aminophospholipid Transporting Activity. Science 272: 1495-1497.
-
(1996)
Science
, vol.272
, pp. 1495-1497
-
-
Tang, X.1
Halleck, M.S.2
Schlegel, R.A.3
Williamson, P.4
-
41
-
-
79955763752
-
Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2
-
Coleman JA, Molday RS, (2011) Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2. The Journal of biological chemistry 286: 17205-17216.
-
(2011)
The Journal of Biological Chemistry
, vol.286
, pp. 17205-17216
-
-
Coleman, J.A.1
Molday, R.S.2
-
42
-
-
70450242726
-
Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes
-
Coleman JA, Kwok MC, Molday RS, (2009) Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. The Journal of biological chemistry 284: 32670-32679.
-
(2009)
The Journal of Biological Chemistry
, vol.284
, pp. 32670-32679
-
-
Coleman, J.A.1
Kwok, M.C.2
Molday, R.S.3
-
43
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
Bull LN, Eijk MJTv, Pawlikowska L, DeYoung JA, Juijn JA, et al. (1998) A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nature Genetics 18: 219-224.
-
(1998)
Nature Genetics
, vol.18
, pp. 219-224
-
-
Bull, L.N.1
Eijk, M.J.T.2
Pawlikowska, L.3
DeYoung, J.A.4
Juijn, J.A.5
-
45
-
-
79955004691
-
The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow
-
Siggs OM, Arnold CN, Huber C, Pirie E, Xia Y, et al. (2011) The P4-type ATPase ATP11C is essential for B lymphopoiesis in adult bone marrow. Nat Immunol 12: 434-440.
-
(2011)
Nat Immunol
, vol.12
, pp. 434-440
-
-
Siggs, O.M.1
Arnold, C.N.2
Huber, C.3
Pirie, E.4
Xia, Y.5
-
46
-
-
79956363526
-
X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C
-
Siggs OM, Schnabl B, Webb B, Beutler B, (2011) X-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11C. Proc Natl Acad Sci U S A 108: 7890-7895.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 7890-7895
-
-
Siggs, O.M.1
Schnabl, B.2
Webb, B.3
Beutler, B.4
-
47
-
-
79954988172
-
ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes
-
Yabas M, Teh CE, Frankenreiter S, Lal D, Roots CM, et al. (2011) ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes. Nat Immunol 12: 441-449.
-
(2011)
Nat Immunol
, vol.12
, pp. 441-449
-
-
Yabas, M.1
Teh, C.E.2
Frankenreiter, S.3
Lal, D.4
Roots, C.M.5
-
48
-
-
42549152012
-
Role of C. elegans TAT-1 Protein in Maintaining Plasma Membrane Phosphatidylserine Asymmetry
-
Darland-Ransom M, Wang X, Sun C-L, Mapes J, Gengyo-Ando K, et al. (2008) Role of C. elegans TAT-1 Protein in Maintaining Plasma Membrane Phosphatidylserine Asymmetry. Science 320: 528-531.
-
(2008)
Science
, vol.320
, pp. 528-531
-
-
Darland-Ransom, M.1
Wang, X.2
Sun, C.-L.3
Mapes, J.4
Gengyo-Ando, K.5
-
49
-
-
67649867465
-
ATP8B1 is essential for maintaining normal hearing
-
Stapelbroek JM, Peters TA, van Beurden DHA, Curfs JHAJ, Joosten A, et al. (2009) ATP8B1 is essential for maintaining normal hearing. Proceedings of the National Academy of Sciences 106: 9709-9714.
-
(2009)
Proceedings of the National Academy of Sciences
, vol.106
, pp. 9709-9714
-
-
Stapelbroek, J.M.1
Peters, T.A.2
van Beurden, D.H.A.3
Curfs, J.H.A.J.4
Joosten, A.5
-
50
-
-
1242295309
-
A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization
-
Wang L, Beserra C, Garbers DL, (2004) A novel aminophospholipid transporter exclusively expressed in spermatozoa is required for membrane lipid asymmetry and normal fertilization. Developmental Biology 267: 203-215.
-
(2004)
Developmental Biology
, vol.267
, pp. 203-215
-
-
Wang, L.1
Beserra, C.2
Garbers, D.L.3
-
51
-
-
1842478372
-
Mice Heterozygous for Atp10c, a Putative Amphipath, Represent a Novel Model of Obesity and Type 2 Diabetes
-
Dhar MS, Sommardahl Carla S, Kirkland Tanisa, Nelson Sarah, Donnell Robert, Johnson Dabney K, Castellani Lawrence W, (2004) Mice Heterozygous for Atp10c, a Putative Amphipath, Represent a Novel Model of Obesity and Type 2 Diabetes. Journal of Nutrition 134: 799-805.
-
(2004)
Journal of Nutrition
, vol.134
, pp. 799-805
-
-
Dhar, M.S.1
Sommardahl Carla, S.2
Kirkland, T.3
Nelson, S.4
Donnell, R.5
Johnson Dabney, K.6
Castellani Lawrence, W.7
-
52
-
-
0037133206
-
Identification of a functional role for lipid asymmetry in biological membranes: Phosphatidylserine-skeletal protein interactions modulate membrane stability
-
Manno S, Takakuwa Y, Mohandas N, (2002) Identification of a functional role for lipid asymmetry in biological membranes: Phosphatidylserine-skeletal protein interactions modulate membrane stability. Proceedings of the National Academy of Sciences of the United States of America 99: 1943-1948.
-
(2002)
Proceedings of the National Academy of Sciences of the United States of America
, vol.99
, pp. 1943-1948
-
-
Manno, S.1
Takakuwa, Y.2
Mohandas, N.3
-
53
-
-
0033552605
-
Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function
-
Chen CY, Ingram MF, Rosal PH, Graham TR, (1999) Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function. The Journal of cell biology 147: 1223-1236.
-
(1999)
The Journal of Cell Biology
, vol.147
, pp. 1223-1236
-
-
Chen, C.Y.1
Ingram, M.F.2
Rosal, P.H.3
Graham, T.R.4
-
54
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, et al. (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448: 68-72.
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
-
55
-
-
49449098975
-
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
-
Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, et al. (2008) Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain: a journal of neurology 131: 1990-2001.
-
(2008)
Brain: A Journal of Neurology
, vol.131
, pp. 1990-2001
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
Shy, M.E.4
Meisler, M.H.5
-
56
-
-
33646247181
-
Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels
-
Duex JE, Nau JJ, Kauffman EJ, Weisman LS, (2006) Phosphoinositide 5-phosphatase Fig 4p is required for both acute rise and subsequent fall in stress-induced phosphatidylinositol 3,5-bisphosphate levels. Eukaryotic cell 5: 723-731.
-
(2006)
Eukaryotic Cell
, vol.5
, pp. 723-731
-
-
Duex, J.E.1
Nau, J.J.2
Kauffman, E.J.3
Weisman, L.S.4
-
57
-
-
79959752314
-
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4
-
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, et al. (2011) Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P(2) phosphatase FIG4. Brain: a journal of neurology 134: 1959-1971.
-
(2011)
Brain: A Journal of Neurology
, vol.134
, pp. 1959-1971
-
-
Nicholson, G.1
Lenk, G.M.2
Reddel, S.W.3
Grant, A.E.4
Towne, C.F.5
-
58
-
-
33644499479
-
The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover
-
Duex JE, Tang F, Weisman LS, (2006) The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover. The Journal of cell biology 172: 693-704.
-
(2006)
The Journal of Cell Biology
, vol.172
, pp. 693-704
-
-
Duex, J.E.1
Tang, F.2
Weisman, L.S.3
-
59
-
-
79959850951
-
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J
-
Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, et al. (2011) Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J. PLoS Genet 7: e1002104.
-
(2011)
PLoS Genet
, vol.7
-
-
Lenk, G.M.1
Ferguson, C.J.2
Chow, C.Y.3
Jin, N.4
Jones, J.M.5
-
60
-
-
33749836234
-
Phosphoinositides in cell regulation and membrane dynamics
-
Di Paolo G, De Camilli P, (2006) Phosphoinositides in cell regulation and membrane dynamics. Nature 443: 651-657.
-
(2006)
Nature
, vol.443
, pp. 651-657
-
-
Di Paolo, G.1
de Camilli, P.2
-
61
-
-
53549122990
-
Function and dysfunction of the PI system in membrane trafficking
-
Vicinanza M, D'Angelo G, Di Campli A, De Matteis MA, (2008) Function and dysfunction of the PI system in membrane trafficking. The EMBO journal 27: 2457-2470.
-
(2008)
The EMBO Journal
, vol.27
, pp. 2457-2470
-
-
Vicinanza, M.1
D'Angelo, G.2
Di Campli, A.3
de Matteis, M.A.4
-
62
-
-
80055083463
-
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies
-
Vaccari I, Dina G, Tronchere H, Kaufman E, Chicanne G, et al. (2011) Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet 7: e1002319.
-
(2011)
PLoS Genet
, vol.7
-
-
Vaccari, I.1
Dina, G.2
Tronchere, H.3
Kaufman, E.4
Chicanne, G.5
-
63
-
-
9444266440
-
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
-
Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, et al. (2004) Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. The Journal of cell biology 167: 711-721.
-
(2004)
The Journal of Cell Biology
, vol.167
, pp. 711-721
-
-
Bolino, A.1
Bolis, A.2
Previtali, S.C.3
Dina, G.4
Bussini, S.5
-
64
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, et al. (2000) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nature Genetics 25: 17-19.
-
(2000)
Nature Genetics
, vol.25
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.5
-
65
-
-
24944473824
-
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings
-
Bolis A, Coviello S, Bussini S, Dina G, Pardini C, et al. (2005) Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. The Journal of neuroscience: the official journal of the Society for Neuroscience 25: 8567-8577.
-
(2005)
The Journal of Neuroscience: The Official Journal of the Society for Neuroscience
, vol.25
, pp. 8567-8577
-
-
Bolis, A.1
Coviello, S.2
Bussini, S.3
Dina, G.4
Pardini, C.5
-
66
-
-
0346156077
-
Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome
-
Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, et al. (2003) Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Molecular cell 12: 1391-1402.
-
(2003)
Molecular Cell
, vol.12
, pp. 1391-1402
-
-
Begley, M.J.1
Taylor, G.S.2
Kim, S.A.3
Veine, D.M.4
Dixon, J.E.5
-
67
-
-
0037040182
-
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease
-
Kim SA, Taylor GS, Torgersen KM, Dixon JE, (2002) Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. The Journal of biological chemistry 277: 4526-4531.
-
(2002)
The Journal of Biological Chemistry
, vol.277
, pp. 4526-4531
-
-
Kim, S.A.1
Taylor, G.S.2
Torgersen, K.M.3
Dixon, J.E.4
-
68
-
-
80053157437
-
Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes
-
Uchida Y, Hasegawa J, Chinnapen D, Inoue T, Okazaki S, et al. (2011) Intracellular phosphatidylserine is essential for retrograde membrane traffic through endosomes. Proc Natl Acad Sci U S A 108: 15846-15851.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 15846-15851
-
-
Uchida, Y.1
Hasegawa, J.2
Chinnapen, D.3
Inoue, T.4
Okazaki, S.5
-
69
-
-
73849102550
-
Phosphatidylserine regulation of Ca2+-triggered exocytosis and fusion pores in PC12 cells
-
Zhang Z, Hui E, Chapman ER, Jackson MB, (2009) Phosphatidylserine regulation of Ca2+-triggered exocytosis and fusion pores in PC12 cells. Mol Biol Cell 20: 5086-5095.
-
(2009)
Mol Biol Cell
, vol.20
, pp. 5086-5095
-
-
Zhang, Z.1
Hui, E.2
Chapman, E.R.3
Jackson, M.B.4
-
70
-
-
84155163114
-
Atp8a1 Deficiency is Associated with Phosphatidylserine Externalization in Hippocampus and Delayed Hippocampus-Dependent Learning
-
Levano K, Punia V, Raghunath M, Debata PR, Curcio GM, et al. (2011) Atp8a1 Deficiency is Associated with Phosphatidylserine Externalization in Hippocampus and Delayed Hippocampus-Dependent Learning. J Neurochem.
-
(2011)
J Neurochem
-
-
Levano, K.1
Punia, V.2
Raghunath, M.3
Debata, P.R.4
Curcio, G.M.5
-
71
-
-
0027057502
-
Different populations of macrophages use either the vitronectin receptor or the phosphatidylserine receptor to recognize and remove apoptotic cells
-
Fadok VA, Savill JS, Haslett C, Bratton DL, Doherty DE, et al. (1992) Different populations of macrophages use either the vitronectin receptor or the phosphatidylserine receptor to recognize and remove apoptotic cells. Journal of Immunology 149: 4029-4035.
-
(1992)
Journal of Immunology
, vol.149
, pp. 4029-4035
-
-
Fadok, V.A.1
Savill, J.S.2
Haslett, C.3
Bratton, D.L.4
Doherty, D.E.5
-
72
-
-
78549241926
-
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
-
Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, et al. (2010) Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet 18: 1360-1363.
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1360-1363
-
-
Cacciagli, P.1
Haddad, M.R.2
Mignon-Ravix, C.3
El-Waly, B.4
Moncla, A.5
-
73
-
-
80155207564
-
Spontaneous remutation (wl<3J>)
-
Cook S, (1995) Spontaneous remutation (wl<3J>). Mouse Genome 93: 862.
-
(1995)
Mouse Genome
, vol.93
, pp. 862
-
-
Cook, S.1
-
74
-
-
0032544036
-
An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse
-
Coleman MP, Conforti L, Buckmaster EA, Tarlton A, Ewing RM, et al. (1998) An 85-kb tandem triplication in the slow Wallerian degeneration (Wlds) mouse. Proc Natl Acad Sci U S A 95: 9985-9990.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 9985-9990
-
-
Coleman, M.P.1
Conforti, L.2
Buckmaster, E.A.3
Tarlton, A.4
Ewing, R.M.5
-
75
-
-
33748545328
-
An Active Dominant Mutation of Glycyl-tRNA Synthetase Causes Neuropathy in a Charcot-Marie-Tooth 2D Mouse Model
-
Seburn KL, Nangle LA, Cox GA, Schimmel P, Burgess RW, (2006) An Active Dominant Mutation of Glycyl-tRNA Synthetase Causes Neuropathy in a Charcot-Marie-Tooth 2D Mouse Model. Neuron 51: 715-726.
-
(2006)
Neuron
, vol.51
, pp. 715-726
-
-
Seburn, K.L.1
Nangle, L.A.2
Cox, G.A.3
Schimmel, P.4
Burgess, R.W.5
-
76
-
-
26844499929
-
Both Laminin and Schwann Cell Dystroglycan Are Necessary for Proper Clustering of Sodium Channels at Nodes of Ranvier
-
Occhi S, Zambroni D, Del Carro U, Amadio S, Sirkowski EE, et al. (2005) Both Laminin and Schwann Cell Dystroglycan Are Necessary for Proper Clustering of Sodium Channels at Nodes of Ranvier. Journal of Neuroscience 25: 9418-9427.
-
(2005)
Journal of Neuroscience
, vol.25
, pp. 9418-9427
-
-
Occhi, S.1
Zambroni, D.2
Del Carro, U.3
Amadio, S.4
Sirkowski, E.E.5
-
77
-
-
50549203170
-
The wabbler-lethal mouse: A study in development
-
Thiessen D, (1965) The wabbler-lethal mouse: A study in development. Animal Behavior 13: 87-100.
-
(1965)
Animal Behavior
, vol.13
, pp. 87-100
-
-
Thiessen, D.1
|