260 related articles for article (PubMed ID: 19625515)
21. Identification and characterization of AFG3L2, a novel paraplegin-related gene.
Banfi S; Bassi MT; Andolfi G; Marchitiello A; Zanotta S; Ballabio A; Casari G; Franco B
Genomics; 1999 Jul; 59(1):51-8. PubMed ID: 10395799
[TBL] [Abstract][Full Text] [Related]
22. Autocatalytic processing of m-AAA protease subunits in mitochondria.
Koppen M; Bonn F; Ehses S; Langer T
Mol Biol Cell; 2009 Oct; 20(19):4216-24. PubMed ID: 19656850
[TBL] [Abstract][Full Text] [Related]
23. Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C; Galatolo D; Rubegni A; Doccini S; Pasquariello R; Nesti C; Sicca F; Barghigiani M; Battini R; Tessa A; Santorelli FM
Ann Clin Transl Neurol; 2020 Apr; 7(4):595-601. PubMed ID: 32237276
[TBL] [Abstract][Full Text] [Related]
24. Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
Huang M; Verbeek DS
Neurosci Lett; 2019 Jan; 688():49-57. PubMed ID: 29421540
[TBL] [Abstract][Full Text] [Related]
25. A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.
Löbbe AM; Kang JS; Hilker R; Hackstein H; Müller U; Nolte D
J Mol Neurosci; 2014 Apr; 52(4):493-6. PubMed ID: 24293060
[TBL] [Abstract][Full Text] [Related]
26. Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.
Smets K; Deconinck T; Baets J; Sieben A; Martin JJ; Smouts I; Wang S; Taroni F; Di Bella D; Van Hecke W; Parizel PM; Jadoul C; De Potter R; Couvreur F; Rugarli E; De Jonghe P
Neurology; 2014 Jun; 82(23):2092-100. PubMed ID: 24814845
[TBL] [Abstract][Full Text] [Related]
27. A novel AFG3L2 mutation in a Somalian patient with spinocerebellar ataxia type 28.
Qu J; Wu CK; Zuzuárregui JR; Hohler AD
J Neurol Sci; 2015 Nov; 358(1-2):530-1. PubMed ID: 26454370
[No Abstract] [Full Text] [Related]
28. A 76-year-old woman presenting with adult-onset, slowly progressive cerebellar symptoms.
Takahashi H; Hayashi S; Sato T
Neuropathology; 2002 Dec; 22(4):360-1. PubMed ID: 12564780
[No Abstract] [Full Text] [Related]
29. Motor neuron degeneration correlates with respiratory dysfunction in SCA1.
Orengo JP; van der Heijden ME; Hao S; Tang J; Orr HT; Zoghbi HY
Dis Model Mech; 2018 Feb; 11(2):. PubMed ID: 29419414
[TBL] [Abstract][Full Text] [Related]
30. Creatine-supplemented diet extends Purkinje cell survival in spinocerebellar ataxia type 1 transgenic mice but does not prevent the ataxic phenotype.
Kaemmerer WF; Rodrigues CM; Steer CJ; Low WC
Neuroscience; 2001; 103(3):713-24. PubMed ID: 11274790
[TBL] [Abstract][Full Text] [Related]
31. Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.
Cesnekova J; Rodinova M; Hansikova H; Zeman J; Stiburek L
Int J Mol Sci; 2018 Dec; 19(12):. PubMed ID: 30544562
[TBL] [Abstract][Full Text] [Related]
32. Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.
Kasumu A; Bezprozvanny I
Cerebellum; 2012 Sep; 11(3):630-9. PubMed ID: 20480274
[TBL] [Abstract][Full Text] [Related]
33. ERK activation precedes Purkinje cell loss in mice with Spinocerebellar ataxia type 17.
Lin CW; Fan CH; Chang YC; Hsieh-Li HM
Neurosci Lett; 2020 Nov; 738():135337. PubMed ID: 32877710
[TBL] [Abstract][Full Text] [Related]
34. Reduced Purkinje cell size is compatible with near normal morphology and function of the cerebellar cortex in a mouse model of spinocerebellar ataxia.
Trzesniewski J; Altmann S; Jäger L; Kapfhammer JP
Exp Neurol; 2019 Jan; 311():205-212. PubMed ID: 30312605
[TBL] [Abstract][Full Text] [Related]
35. A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
Baderna V; Schultz J; Kearns LS; Fahey M; Thompson BA; Ruddle JB; Huq A; Maltecca F
Acta Neuropathol Commun; 2020 Jun; 8(1):93. PubMed ID: 32600459
[TBL] [Abstract][Full Text] [Related]
36. A New Mouse Model Related to SCA14 Carrying a Pseudosubstrate Domain Mutation in PKCγ Shows Perturbed Purkinje Cell Maturation and Ataxic Motor Behavior.
Shimobayashi E; Kapfhammer JP
J Neurosci; 2021 Mar; 41(9):2053-2068. PubMed ID: 33478986
[TBL] [Abstract][Full Text] [Related]
37. Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.
Mancuso G; Barth E; Crivello P; Rugarli EI
PLoS One; 2012; 7(5):e36337. PubMed ID: 22563492
[TBL] [Abstract][Full Text] [Related]
38. Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders.
Ghosh Dastidar R; Banerjee S; Lal PB; Ghosh Dastidar S
Mol Neurobiol; 2023 Nov; ():. PubMed ID: 38012514
[TBL] [Abstract][Full Text] [Related]
39. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
Cagnoli C; Stevanin G; Brussino A; Barberis M; Mancini C; Margolis RL; Holmes SE; Nobili M; Forlani S; Padovan S; Pappi P; Zaros C; Leber I; Ribai P; Pugliese L; Assalto C; Brice A; Migone N; Dürr A; Brusco A
Hum Mutat; 2010 Oct; 31(10):1117-24. PubMed ID: 20725928
[TBL] [Abstract][Full Text] [Related]
40. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
Jia D; Tang B; Chen Z; Shi Y; Sun Z; Zhang L; Wang J; Xia K; Jiang H
Int J Neurosci; 2012 Oct; 122(10):560-2. PubMed ID: 22563911
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
