-
1
-
-
84922993806
-
Hereditary spastic paraplegia: clinical principles and genetic advances
-
Fink JK, (2014) Hereditary spastic paraplegia: clinical principles and genetic advances. Semin Neurol 34: 293–305. doi: 10.1055/s-0034-1386767 25192507
-
(2014)
Semin Neurol
, vol.34
, pp. 293-305
-
-
Fink, J.K.1
-
2
-
-
84893041011
-
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders
-
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, et al. (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506–511. doi: 10.1126/science.1247363 24482476
-
(2014)
Science
, vol.343
, pp. 506-511
-
-
Novarino, G.1
Fenstermaker, A.G.2
Zaki, M.S.3
Hofree, M.4
Silhavy, J.L.5
-
3
-
-
84903537571
-
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
-
Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, et al. (2014) Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. Brain 137: 1907–1920. doi: 10.1093/brain/awu121 24833714
-
(2014)
Brain
, vol.137
, pp. 1907-1920
-
-
Pensato, V.1
Castellotti, B.2
Gellera, C.3
Pareyson, D.4
Ciano, C.5
-
4
-
-
33847298447
-
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
-
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, et al. (2007) Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 39: 366–372. 17322883
-
(2007)
Nat Genet
, vol.39
, pp. 366-372
-
-
Stevanin, G.1
Santorelli, F.M.2
Azzedine, H.3
Coutinho, P.4
Chomilier, J.5
-
5
-
-
41549153666
-
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
-
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, et al. (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82: 992–1002. doi: 10.1016/j.ajhg.2008.03.004 18394578
-
(2008)
Am J Hum Genet
, vol.82
, pp. 992-1002
-
-
Hanein, S.1
Martin, E.2
Boukhris, A.3
Byrne, P.4
Goizet, C.5
-
6
-
-
77954706670
-
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia
-
Slabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, et al. (2010) A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 8: e1000408. doi: 10.1371/journal.pbio.1000408 20613862
-
(2010)
PLoS Biol
, vol.8
, pp. 1000408
-
-
Slabicki, M.1
Theis, M.2
Krastev, D.B.3
Samsonov, S.4
Mundwiller, E.5
-
7
-
-
80055036494
-
The fifth adaptor protein complex
-
Hirst J, Barlow LD, Francisco GC, Sahlender DA, Seaman MN, et al. (2011) The fifth adaptor protein complex. PLoS Biol 9: e1001170. doi: 10.1371/journal.pbio.1001170 22022230
-
(2011)
PLoS Biol
, vol.9
, pp. 1001170
-
-
Hirst, J.1
Barlow, L.D.2
Francisco, G.C.3
Sahlender, D.A.4
Seaman, M.N.5
-
8
-
-
84872038046
-
Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia
-
Hirst J, Irving C, Borner GH, (2013) Adaptor Protein Complexes AP-4 and AP-5: New Players in Endosomal Trafficking and Progressive Spastic Paraplegia. Traffic 14: 153–164. doi: 10.1111/tra.12028 23167973
-
(2013)
Traffic
, vol.14
, pp. 153-164
-
-
Hirst, J.1
Irving, C.2
Borner, G.H.3
-
9
-
-
77950510375
-
PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody
-
Sagona AP, Nezis IP, Pedersen NM, Liestol K, Poulton J, et al. (2010) PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. Nat Cell Biol 12: 362–371. doi: 10.1038/ncb2036 20208530
-
(2010)
Nat Cell Biol
, vol.12
, pp. 362-371
-
-
Sagona, A.P.1
Nezis, I.P.2
Pedersen, N.M.3
Liestol, K.4
Poulton, J.5
-
10
-
-
84884832754
-
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15
-
Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, et al. (2013) Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain 136: 3119–3139. doi: 10.1093/brain/awt227 24030950
-
(2013)
Brain
, vol.136
, pp. 3119-3139
-
-
Vantaggiato, C.1
Crimella, C.2
Airoldi, G.3
Polishchuk, R.4
Bonato, S.5
-
11
-
-
84906836993
-
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia
-
Perez-Branguli F, Mishra HK, Prots I, Havlicek S, Kohl Z, et al. (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet 23: 4859–4874. doi: 10.1093/hmg/ddu200 24794856
-
(2014)
Hum Mol Genet
, vol.23
, pp. 4859-4874
-
-
Perez-Branguli, F.1
Mishra, H.K.2
Prots, I.3
Havlicek, S.4
Kohl, Z.5
-
12
-
-
84882739113
-
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15
-
Hirst J, Borner GH, Edgar J, Hein MY, Mann M, et al. (2013) Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. Mol Biol Cell 24: 2558–2569. doi: 10.1091/mbc.E13-03-0170 23825025
-
(2013)
Mol Biol Cell
, vol.24
, pp. 2558-2569
-
-
Hirst, J.1
Borner, G.H.2
Edgar, J.3
Hein, M.Y.4
Mann, M.5
-
13
-
-
84892728118
-
A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System
-
Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, et al. (2013) A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System. PLoS Genet 9: e1003988. doi: 10.1371/journal.pgen.1003988 24367272
-
(2013)
PLoS Genet
, vol.9
, pp. 1003988
-
-
Khundadze, M.1
Kollmann, K.2
Koch, N.3
Biskup, C.4
Nietzsche, S.5
-
14
-
-
84915817183
-
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
-
Renvoise B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, et al. (2014) Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol 1: 379–389. 24999486
-
(2014)
Ann Clin Transl Neurol
, vol.1
, pp. 379-389
-
-
Renvoise, B.1
Chang, J.2
Singh, R.3
Yonekawa, S.4
FitzGibbon, E.J.5
-
15
-
-
84915793059
-
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation
-
Chang J, Lee S, Blackstone C, (2014) Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation. J Clin Invest 124: 5249–5262. doi: 10.1172/JCI77598 25365221
-
(2014)
J Clin Invest
, vol.124
, pp. 5249-5262
-
-
Chang, J.1
Lee, S.2
Blackstone, C.3
-
16
-
-
84892875805
-
At the end of the autophagic road: an emerging understanding of lysosomal functions in autophagy
-
Shen HM, Mizushima N, (2014) At the end of the autophagic road: an emerging understanding of lysosomal functions in autophagy. Trends Biochem Sci 39: 61–71. doi: 10.1016/j.tibs.2013.12.001 24369758
-
(2014)
Trends Biochem Sci
, vol.39
, pp. 61-71
-
-
Shen, H.M.1
Mizushima, N.2
-
17
-
-
46549089463
-
The determination of projection neuron identity in the developing cerebral cortex
-
Leone DP, Srinivasan K, Chen B, Alcamo E, McConnell SK, (2008) The determination of projection neuron identity in the developing cerebral cortex. Curr Opin Neurobiol 18: 28–35. doi: 10.1016/j.conb.2008.05.006 18508260
-
(2008)
Curr Opin Neurobiol
, vol.18
, pp. 28-35
-
-
Leone, D.P.1
Srinivasan, K.2
Chen, B.3
Alcamo, E.4
McConnell, S.K.5
-
18
-
-
84886090910
-
Molecular logic of neocortical projection neuron specification, development and diversity
-
Greig LC, Woodworth MB, Galazo MJ, Padmanabhan H, Macklis JD, (2013) Molecular logic of neocortical projection neuron specification, development and diversity. Nat Rev Neurosci 14: 755–769. doi: 10.1038/nrn3586 24105342
-
(2013)
Nat Rev Neurosci
, vol.14
, pp. 755-769
-
-
Greig, L.C.1
Woodworth, M.B.2
Galazo, M.J.3
Padmanabhan, H.4
Macklis, J.D.5
-
19
-
-
84864808982
-
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish
-
Martin E, Yanicostas C, Rastetter A, Naini SM, Maouedj A, et al. (2012) Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. Neurobiol Dis 48: 299–308. doi: 10.1016/j.nbd.2012.07.003 22801083
-
(2012)
Neurobiol Dis
, vol.48
, pp. 299-308
-
-
Martin, E.1
Yanicostas, C.2
Rastetter, A.3
Naini, S.M.4
Maouedj, A.5
-
20
-
-
81055144784
-
Autophagy: renovation of cells and tissues
-
Mizushima N, Komatsu M, (2011) Autophagy: renovation of cells and tissues. Cell 147: 728–741. doi: 10.1016/j.cell.2011.10.026 22078875
-
(2011)
Cell
, vol.147
, pp. 728-741
-
-
Mizushima, N.1
Komatsu, M.2
-
21
-
-
72449147350
-
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
-
Schule R, Schlipf N, Synofzik M, Klebe S, Klimpe S, et al. (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 80: 1402–1404. doi: 10.1136/jnnp.2008.167528 19917823
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 1402-1404
-
-
Schule, R.1
Schlipf, N.2
Synofzik, M.3
Klebe, S.4
Klimpe, S.5
-
22
-
-
10744230446
-
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold
-
Boettger T, Rust MB, Maier H, Seidenbecher T, Schweizer M, et al. (2003) Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J 22: 5422–5434. 14532115
-
(2003)
EMBO J
, vol.22
, pp. 5422-5434
-
-
Boettger, T.1
Rust, M.B.2
Maier, H.3
Seidenbecher, T.4
Schweizer, M.5
-
23
-
-
0020036242
-
Deficiency of corpus callosum varies with strain and supplier of the mice
-
Wahlsten D, (1982) Deficiency of corpus callosum varies with strain and supplier of the mice. Brain Res 239: 329–347. 7093694
-
(1982)
Brain Res
, vol.239
, pp. 329-347
-
-
Wahlsten, D.1
-
24
-
-
84885072054
-
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping
-
Beetz C, Koch N, Khundadze M, Zimmer G, Nietzsche S, et al. (2013) A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. J Clin Invest 123: 4273–4282. doi: 10.1172/JCI65665 24051375
-
(2013)
J Clin Invest
, vol.123
, pp. 4273-4282
-
-
Beetz, C.1
Koch, N.2
Khundadze, M.3
Zimmer, G.4
Nietzsche, S.5
-
25
-
-
1342310772
-
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport
-
Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, et al. (2004) Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 113: 231–242. 14722615
-
(2004)
J Clin Invest
, vol.113
, pp. 231-242
-
-
Ferreirinha, F.1
Quattrini, A.2
Pirozzi, M.3
Valsecchi, V.4
Dina, G.5
-
26
-
-
33845353014
-
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition
-
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, et al. (2006) A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 15: 3544–3558. 17101632
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3544-3558
-
-
Tarrade, A.1
Fassier, C.2
Courageot, S.3
Charvin, D.4
Vitte, J.5
-
27
-
-
20344398223
-
Astrocyte activation and reactive gliosis
-
Pekny M, Nilsson M, (2005) Astrocyte activation and reactive gliosis. Glia 50: 427–434. 15846805
-
(2005)
Glia
, vol.50
, pp. 427-434
-
-
Pekny, M.1
Nilsson, M.2
-
28
-
-
84881541393
-
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
-
Kollmann K, Uusi-Rauva K, Scifo E, Tyynela J, Jalanko A, et al. (2013) Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta 1832: 1866–1881. doi: 10.1016/j.bbadis.2013.01.019 23402926
-
(2013)
Biochim Biophys Acta
, vol.1832
, pp. 1866-1881
-
-
Kollmann, K.1
Uusi-Rauva, K.2
Scifo, E.3
Tyynela, J.4
Jalanko, A.5
-
29
-
-
37849037355
-
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia
-
Hehr U, Bauer P, Winner B, Schule R, Olmez A, et al. (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol 62: 656–665. 18067136
-
(2007)
Ann Neurol
, vol.62
, pp. 656-665
-
-
Hehr, U.1
Bauer, P.2
Winner, B.3
Schule, R.4
Olmez, A.5
-
30
-
-
53549084325
-
Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?
-
Klionsky DJ, Elazar Z, Seglen PO, Rubinsztein DC, (2008) Does bafilomycin A1 block the fusion of autophagosomes with lysosomes? Autophagy 4: 849–850. 18758232
-
(2008)
Autophagy
, vol.4
, pp. 849-850
-
-
Klionsky, D.J.1
Elazar, Z.2
Seglen, P.O.3
Rubinsztein, D.C.4
-
31
-
-
33745192802
-
Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
-
Hara T, Nakamura K, Matsui M, Yamamoto A, Nakahara Y, et al. (2006) Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. Nature 441: 885–889. 16625204
-
(2006)
Nature
, vol.441
, pp. 885-889
-
-
Hara, T.1
Nakamura, K.2
Matsui, M.3
Yamamoto, A.4
Nakahara, Y.5
-
32
-
-
33646800306
-
Loss of autophagy in the central nervous system causes neurodegeneration in mice
-
Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, et al. (2006) Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441: 880–884. 16625205
-
(2006)
Nature
, vol.441
, pp. 880-884
-
-
Komatsu, M.1
Waguri, S.2
Chiba, T.3
Murata, S.4
Iwata, J.5
-
33
-
-
33745976466
-
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
-
Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, et al. (2006) Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem 281: 20483–20493. 16714284
-
(2006)
J Biol Chem
, vol.281
, pp. 20483-20493
-
-
Cao, Y.1
Espinola, J.A.2
Fossale, E.3
Massey, A.C.4
Cuervo, A.M.5
-
34
-
-
28244493702
-
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease)
-
Koike M, Shibata M, Waguri S, Yoshimura K, Tanida I, et al. (2005) Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am J Pathol 167: 1713–1728. 16314482
-
(2005)
Am J Pathol
, vol.167
, pp. 1713-1728
-
-
Koike, M.1
Shibata, M.2
Waguri, S.3
Yoshimura, K.4
Tanida, I.5
-
35
-
-
84876812269
-
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
-
Settembre C, Fraldi A, Medina DL, Ballabio A, (2013) Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol 14: 283–296. doi: 10.1038/nrm3565 23609508
-
(2013)
Nat Rev Mol Cell Biol
, vol.14
, pp. 283-296
-
-
Settembre, C.1
Fraldi, A.2
Medina, D.L.3
Ballabio, A.4
-
36
-
-
69249227502
-
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
-
Saftig P, Klumperman J, (2009) Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat Rev Mol Cell Biol 10: 623–635. doi: 10.1038/nrm2745 19672277
-
(2009)
Nat Rev Mol Cell Biol
, vol.10
, pp. 623-635
-
-
Saftig, P.1
Klumperman, J.2
-
37
-
-
77953699711
-
Termination of autophagy and reformation of lysosomes regulated by mTOR
-
Yu L, McPhee CK, Zheng L, Mardones GA, Rong Y, et al. (2010) Termination of autophagy and reformation of lysosomes regulated by mTOR. Nature 465: 942–946. doi: 10.1038/nature09076 20526321
-
(2010)
Nature
, vol.465
, pp. 942-946
-
-
Yu, L.1
McPhee, C.K.2
Zheng, L.3
Mardones, G.A.4
Rong, Y.5
-
38
-
-
84867046146
-
A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule
-
Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, et al. (2012) A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule. EMBO Mol Med 4: 1057–1071. doi: 10.1002/emmm.201201527 22933323
-
(2012)
EMBO Mol Med
, vol.4
, pp. 1057-1071
-
-
Hennings, J.C.1
Picard, N.2
Huebner, A.K.3
Stauber, T.4
Maier, H.5
-
39
-
-
84866402050
-
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice
-
Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, et al. (2012) Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice. Brain 135: 2661–2675. doi: 10.1093/brain/aws209 22961545
-
(2012)
Brain
, vol.135
, pp. 2661-2675
-
-
Kollmann, K.1
Damme, M.2
Markmann, S.3
Morelle, W.4
Schweizer, M.5
-
40
-
-
33645297442
-
Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3
-
Rust MB, Faulhaber J, Budack MK, Pfeffer C, Maritzen T, et al. (2006) Neurogenic mechanisms contribute to hypertension in mice with disruption of the K-Cl cotransporter KCC3. Circ Res 98: 549–556. 16424367
-
(2006)
Circ Res
, vol.98
, pp. 549-556
-
-
Rust, M.B.1
Faulhaber, J.2
Budack, M.K.3
Pfeffer, C.4
Maritzen, T.5
-
41
-
-
33748779034
-
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
-
Poet M, Kornak U, Schweizer M, Zdebik AA, Scheel O, et al. (2006) Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A 103: 13854–13859. 16950870
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 13854-13859
-
-
Poet, M.1
Kornak, U.2
Schweizer, M.3
Zdebik, A.A.4
Scheel, O.5
-
42
-
-
84863204506
-
BioImageXD: an open, general-purpose and high-throughput image-processing platform
-
Kankaanpaa P, Paavolainen L, Tiitta S, Karjalainen M, Paivarinne J, et al. (2012) BioImageXD: an open, general-purpose and high-throughput image-processing platform. Nat Methods 9: 683–689. doi: 10.1038/nmeth.2047 22743773
-
(2012)
Nat Methods
, vol.9
, pp. 683-689
-
-
Kankaanpaa, P.1
Paavolainen, L.2
Tiitta, S.3
Karjalainen, M.4
Paivarinne, J.5
-
43
-
-
77953564940
-
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation
-
Weinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, et al. (2010) Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science 328: 1401–1403. doi: 10.1126/science.1188072 20430974
-
(2010)
Science
, vol.328
, pp. 1401-1403
-
-
Weinert, S.1
Jabs, S.2
Supanchart, C.3
Schweizer, M.4
Gimber, N.5
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