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Autophagy|January 28, 2010
VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFDEmilie Tresse, Florian A Salomons, Jouni Vesa, et al.
Genes & Development|May 30, 2024
Nuclear receptor signaling via NHR-49/MDT-15 regulates stress resilience and proteostasis in response to reproductive and metabolic cuesAmbre J Sala, Rogan A Grant, Ghania Imran, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 13, 2016
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular AtrophyNaemeh Pourshafie, Philip R Lee, Ke-Lian Chen, et al.
Neurobiology of Disease|June 14, 2014
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patientsChristopher Grunseich, Kristen Zukosky, Ilona R Kats, et al.
Communications Biology|June 20, 2024
Hetero-oligomerization of TDP-43 carboxy-terminal fragments with cellular proteins contributes to proteotoxicityAkira Kitamura, Ai Fujimoto, Rei Kawashima, et al.
Human Molecular Genetics|March 11, 2016
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophyLaura C Bott, Nisha M Badders, Ke-Lian Chen, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Sexual Reassignment Fails to Prevent Kennedy's DiseaseTyler A Lanman, Dara Bakar, Nisha M Badders, et al.
Neuromuscular Disorders : NMD|July 23, 2014
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeatChristopher Grunseich, Ilona R Kats, Laura C Bott, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Brain Communications|December 15, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
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