125 related articles for article (PubMed ID: 34808209)
1. A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
Kelly CM; Zeiger PJ; Narayanan V; Ramsey K; Sondermann H
J Biol Chem; 2022 Jan; 298(1):101438. PubMed ID: 34808209
[TBL] [Abstract][Full Text] [Related]
2. Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
Zhu PP; Denton KR; Pierson TM; Li XJ; Blackstone C
Hum Mol Genet; 2014 Nov; 23(21):5638-48. PubMed ID: 24908668
[TBL] [Abstract][Full Text] [Related]
3. Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
Smith BN; Bevan S; Vance C; Renwick P; Wilkinson P; Proukakis C; Squitieri F; Berardelli A; Warner TT; Reid E; Shaw CE
Clin Genet; 2009 May; 75(5):485-9. PubMed ID: 19459885
[TBL] [Abstract][Full Text] [Related]
4. Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.
Shin JW; Jung KH; Lee ST; Moon J; Seong MW; Park SS; Lee SK; Chu K
Auton Neurosci; 2014 Oct; 185():141-3. PubMed ID: 24969372
[TBL] [Abstract][Full Text] [Related]
5. The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
Botzolakis EJ; Zhao J; Gurba KN; Macdonald RL; Hedera P
Mol Cell Neurosci; 2011 Jan; 46(1):122-35. PubMed ID: 20816793
[TBL] [Abstract][Full Text] [Related]
6. Fusing a lasting relationship between ER tubules.
Moss TJ; Daga A; McNew JA
Trends Cell Biol; 2011 Jul; 21(7):416-23. PubMed ID: 21550242
[TBL] [Abstract][Full Text] [Related]
7. Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL; Hsueh HW; Chen SY; Chang YY; Tan S; Hong CT; Tsai YS; Yu KW; Wu HM; Liao YC; Soong BW; Hu CJ; Lan MY; Lee YC
Parkinsonism Relat Disord; 2021 Jun; 87():87-91. PubMed ID: 34015694
[TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic analysis of a Korean family with hereditary spastic paraplegia type 3.
Kwon MJ; Lee ST; Kim JW; Sung DH; Ki CS
Ann Clin Lab Sci; 2010; 40(4):375-9. PubMed ID: 20947813
[TBL] [Abstract][Full Text] [Related]
9. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.
Zhu PP; Soderblom C; Tao-Cheng JH; Stadler J; Blackstone C
Hum Mol Genet; 2006 Apr; 15(8):1343-53. PubMed ID: 16537571
[TBL] [Abstract][Full Text] [Related]
10. Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegia.
Albin RL; Koeppe RA; Rainier S; Fink JK
J Neurogenet; 2008; 22(4):289-94. PubMed ID: 19085270
[TBL] [Abstract][Full Text] [Related]
11. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C; Zhu PP; Leonardis L; Papić L; Zidar J; Schabhüttl M; Strohmaier H; Weis J; Strom TM; Baets J; Willems J; De Jonghe P; Reilly MM; Fröhlich E; Hatz M; Trajanoski S; Pieber TR; Janecke AR; Blackstone C; Auer-Grumbach M
Am J Hum Genet; 2011 Jan; 88(1):99-105. PubMed ID: 21194679
[TBL] [Abstract][Full Text] [Related]
12. Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Zhu PP; Hung HF; Batchenkova N; Nixon-Abell J; Henderson J; Zheng P; Renvoisé B; Pang S; Xu CS; Saalfeld S; Funke J; Xie Y; Svara F; Hess HF; Blackstone C
Hum Mol Genet; 2022 Aug; 31(16):2779-2795. PubMed ID: 35348668
[TBL] [Abstract][Full Text] [Related]
13. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
Abel A; Fonknechten N; Hofer A; Dürr A; Cruaud C; Voit T; Weissenbach J; Brice A; Klimpe S; Auburger G; Hazan J
Neurogenetics; 2004 Dec; 5(4):239-43. PubMed ID: 15517445
[TBL] [Abstract][Full Text] [Related]
14. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
[TBL] [Abstract][Full Text] [Related]
15. A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core.
O'Donnell JP; Byrnes LJ; Cooley RB; Sondermann H
J Biol Chem; 2018 Jan; 293(2):687-700. PubMed ID: 29180453
[TBL] [Abstract][Full Text] [Related]
16. Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A.
Byrnes LJ; Sondermann H
Proc Natl Acad Sci U S A; 2011 Feb; 108(6):2216-21. PubMed ID: 21220294
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.
Sauter SM; Engel W; Neumann LM; Kunze J; Neesen J
Hum Mutat; 2004 Jan; 23(1):98. PubMed ID: 14695538
[TBL] [Abstract][Full Text] [Related]
18. Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
Zhao J; Hedera P
Mol Cell Neurosci; 2013 Jan; 52():87-96. PubMed ID: 23079343
[TBL] [Abstract][Full Text] [Related]
19. Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.
Bian X; Klemm RW; Liu TY; Zhang M; Sun S; Sui X; Liu X; Rapoport TA; Hu J
Proc Natl Acad Sci U S A; 2011 Mar; 108(10):3976-81. PubMed ID: 21368113
[TBL] [Abstract][Full Text] [Related]
20. Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS; Ozomaro U; Huang J; Montenegro G; Kushman A; Citrigno L; Price J; Speziani F; Pericak-Vance MA; Züchner S
Clin Genet; 2011 Jun; 79(6):523-30. PubMed ID: 20718791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]