Results 121 to 130 of about 14,352 (184)

Pediatric-onset spinocerebellar ataxia type 3 with dual <i>ATXN3</i> and <i>HTT</i> gene mutations: a case report and literature-informed hypothesis. [PDF]

Front Genet
Wang D, Zhou M, Du K, Wang Y, Tang K, Duan Y, Shi M, Wu H.   +7 more
europepmc   +1 more source

Identification of Splicing Regulatory Activity of ATXN1 and Its Associated Domains. [PDF]

Biomolecules
Ohki A, Kato M, Aoki Y, Kubokawa A, Yanaizu M, Kino Y.   +5 more
europepmc   +1 more source

Restoring early postnatal synaptic dysregulation rescues motor neuron degeneration in a mouse model of Spinal and Bulbar Muscular Atrophy. [PDF]

Nat Commun
Hirunagi T, Sahashi K, Iida M, Onodera K, Yokoi S, Ogura Y, Tohnai G, Sakakibara K, Maeda K, Bennett CF, Okada Y, Katsuno M.   +11 more
europepmc   +1 more source

Electrical silencing of dendritic arborization neurons rescues toxic polyglutamine-induced locomotion defect. [PDF]

Fly (Austin)
Miao H, Kim WJ.
europepmc   +1 more source

Degradation factor 1, Def1, regulates mRNA translation and decay through Ccr4-Not-dependent ubiquitylation of the ribosome. [PDF]

RNA
Akinniyi OT, Sebastian A, Kulkarni S, Albert I, Reese JC.   +4 more
europepmc   +1 more source

Familial spinocerebellar ataxia type 3: A case report of multi-generational presentation. [PDF]

Medicine (Baltimore)
Wang J, Liu Z, Shi C, Pan C, Chen J, Zhao Z, Yang D, Huang H.   +7 more
europepmc   +1 more source

Epitope-specific antibodies can distinguish between soluble huntingtin exon-1 and its diverse cellular aggregates. [PDF]

J Biol Chem
Lugo J, Xu H, Chen J, Khoshnan A, Langen R.   +4 more
europepmc   +1 more source

Multiscale Simulations Elucidate the Mechanism of Polyglutamine Aggregation and the Role of Flanking Domains in Fibril Polymorphism. [PDF]

J Phys Chem B
Kulshrestha A, Phan TM, Rizuan A, Mohanty P, Mittal J.   +4 more
europepmc   +1 more source

Oligodendrocyte dysfunction contributes to motor deficits and Purkinje cell axonopathy in spinocerebellar ataxia type 1. [PDF]

J Clin Invest
Lee C, Grijalva RM, Tejwani L, Bae E, Chase A, Ro H, Kim H, Olmos V, Orengo JP, Lim J.   +9 more
europepmc   +1 more source

Aggregate fragmentation: the ticket to aggrephagy. [PDF]

Autophagy
Mauthe M, Kampinga H, Reggiori F.
europepmc   +1 more source