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Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity. Acta Neuropathol Commun. 2023 10 17; 11(1):164.
Bennett CL, Dastidar S, Arnold FJ, McKinstry SU, Stockford C, Freibaum BD, Sopher BL, Wu M, Seidner G, Joiner W, Taylor JP, West RJH, La Spada AR. PMID: 37845749; PMCID: PMC10580588.
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Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature. 2022 Aug; 608(7924):E34.
Campisi L, Chizari S, Ho JSY, Gromova A, Arnold FJ, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, Seldin MM, De Rubeis S, Bennett CL, Ostrow LW, Lunetta C, Squatrito M, Byun M, Shneider NA, Jiang N, La Spada AR, Marazzi I. PMID: 35945277.
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Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4. Nature. 2022 06; 606(7916):945-952.
Campisi L, Chizari S, Ho JSY, Gromova A, Arnold FJ, Mosca L, Mei X, Fstkchyan Y, Torre D, Beharry C, Garcia-Forn M, Jiménez-Alcázar M, Korobeynikov VA, Prazich J, Fayad ZA, Seldin MM, De Rubeis S, Bennett CL, Ostrow LW, Lunetta C, Squatrito M, Byun M, Shneider NA, Jiang N, La Spada AR, Marazzi I. PMID: 35732742; PMCID: PMC10089623.
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20 Fields:
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De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy. Acta Neuropathol Commun. 2021 12 18; 9(1):194.
Hadjinicolaou A, Ngo KJ, Conway DY, Provias JP, Baker SK, Brady LI, Bennett CL, La Spada AR, Fogel BL, Yoon G. PMID: 34922620; PMCID: PMC8684165.
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3 Fields:
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HumansAnimals
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SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease. Mol Genet Genomic Med. 2021 12; 9(12):e1745.
Bennett CL, La Spada AR. PMID: 34263556; PMCID: PMC8683630.
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9 Fields:
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HumansAnimalsCells
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Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. Heliyon. 2020 Jun; 6(6):e04165.
Bennett CL, Sopher BL, La Spada AR. PMID: 32577562; PMCID: PMC7301172.
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4
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Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients. Acta Neuropathol. 2018 09; 136(3):425-443.
Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR. PMID: 29725819; PMCID: PMC6098723.
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31 Fields:
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Senataxin, A Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration. Adv Neurobiol. 2018; 20:265-281.
Bennett CL, La Spada AR. PMID: 29916023.
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18 Fields:
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HumansCells
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Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein. Mol Cell Biol. 2015 Jul; 35(14):2464-78.
Li W, Zhu H, Zhao X, Brancho D, Liang Y, Zou Y, Bennett C, Chow CW. PMID: 25963657; PMCID: PMC4475921.
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6 Fields:
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Unwinding the role of senataxin in neurodegeneration. Discov Med. 2015 Feb; 19(103):127-36.
Bennett CL, La Spada AR. PMID: 25725227.
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18 Fields:
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HumansAnimalsCells
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Microtubule defects & Neurodegeneration. J Genet Syndr Gene Ther. 2013 Dec 06; 4:203.
Baird FJ, Bennett CL. PMID: 24563812; PMCID: PMC3930179.
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28
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Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide. PLoS One. 2013; 8(11):e78837.
Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR. PMID: 24244371; PMCID: PMC3823977.
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12 Fields:
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Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes. Mol Biol Cell. 2013 Jun; 24(11):1619-37, S1-3.
Zhu H, Guariglia S, Yu RY, Li W, Brancho D, Peinado H, Lyden D, Salzer J, Bennett C, Chow CW. PMID: 23576546; PMCID: PMC3667717.
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52 Fields:
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Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl). 2010 Nov; 123(22):3326-33.
Chen YZ, Gao Q, Zhao XZ, Chen YZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM. PMID: 21163139.
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40 Fields:
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Humans
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Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration mice reveals a role for Nna proteins in neuronal bioenergetics. Neuron. 2010 Jun 24; 66(6):835-47.
Chakrabarti L, Zahra R, Jackson SM, Kazemi-Esfarjani P, Sopher BL, Mason AG, Toneff T, Ryu S, Shaffer S, Kansy JW, Eng J, Merrihew G, MacCoss MJ, Murphy A, Goodlett DR, Hook V, Bennett CL, Pallanck LJ, La Spada AR. PMID: 20620870; PMCID: PMC3101252.
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27 Fields:
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HumansAnimalsCells
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Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 2009 May; 50(5):1167-75.
Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM. PMID: 19128417.
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27 Fields:
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Humans
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Litaf/Simple protein is increased in intestinal tissues from patients with CD and UC, but is unlikely to function as a transcription factor. Inflamm Bowel Dis. 2007 Jan; 13(1):120-1.
Huang Y, Bennett CL. PMID: 17206649.
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7 Fields:
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Humans
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Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease. Neurobiol Dis. 2006 Jul; 23(1):97-108.
Chen YZ, Hashemi SH, Anderson SK, Huang Y, Moreira MC, Lynch DR, Glass IA, Chance PF, Bennett CL. PMID: 16644229.
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49 Fields:
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SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease. J Neurosci Res. 2005 Oct 01; 82(1):43-50.
Shirk AJ, Anderson SK, Hashemi SH, Chance PF, Bennett CL. PMID: 16118794.
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37 Fields:
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul; 75(1):82-91.
Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. PMID: 15138899; PMCID: PMC1182011.
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107 Fields:
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SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol. 2004 May; 55(5):713-20.
Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. PMID: 15122712.
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23 Fields:
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Humans
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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet. 2004 Jun; 74(6):1128-35.
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. PMID: 15106121; PMCID: PMC1182077.
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304 Fields:
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Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. Am J Med Genet A. 2004 Mar 01; 125A(2):117-24; discussion 117.
Bennett CL, Parisi MA, Eckert ML, Huynh HM, Chance PF, Glass IA. PMID: 14981711.
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2 Fields:
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An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia. 2003 Dec; 44(12):1529-35.
Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF. PMID: 14636323.
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18 Fields:
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New gene for CMT. J Peripher Nerv Syst. 2003 Dec; 8(4):206.
Street VA, Bennett CL, Bird TD, Chance PF. PMID: 14641644.
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Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet. 2002 Jan 22; 107(3):190-6.
Blair IP, Gibson RR, Bennett CL, Chance PF. PMID: 11807898.
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8 Fields:
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HumansCells