Results 61 to 70 of about 25,975 (129)

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, Volume 36, Issue 5, September 2026.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS‐associated NEK1 variant

The FEBS Journal, Volume 293, Issue 17, Page 5145-5148, September 2026.
Insoluble protein aggregates are a hallmark of neurodegenerative diseases like amyotrophic lateral sclerosis (ALS). The ubiquitin–proteasome system (UPS) serves as a neuroprotective quality control mechanism that clears aggregates. PML nuclear bodies (NBs) were proposed to serve as hubs for SUMO‐primed ubiquitylation and degradation of misfolded ...
Tabea Stark, Stefan Müller
wiley   +1 more source

Large-Scale Functional RNAi Screen in Identifies TGF-β and Notch Signaling Pathways as Modifiers of

ASN Neuro, 2016
Variants in CACNA1A that encodes the pore-forming α 1 -subunit of human voltage-gated Cav2.1 (P/Q-type) Ca 2+ channels cause several autosomal-dominant neurologic disorders, including familial hemiplegic migraine type 1, episodic ataxia type 2, and ...
Maria da Conceição Pereira, Sara Morais, Jorge Sequeiros, Isabel Alonso   +3 more
doaj   +1 more source

Spinocerebellar Ataxia Type 6 and Japanese Immigration to Brazil. [PDF]

Mov Disord Clin Pract, 2023
Massuyama BK, Tonholo Silva TY, Pedroso JL, Barsottini OGP.   +3 more
europepmc   +1 more source

Motor and Cerebellar Architectural Abnormalities during the Early Progression of Ataxia in a Mouse Model of SCA1 and How Early Prevention Leads to a Better Outcome Later in Life

Frontiers in Cellular Neuroscience, 2017
Exposing developing cerebellar Purkinje neurons (PNs) to mutant Ataxin1 (ATXN1) in 82Q spinocerebellar ataxia type 1 (SCA1) mice disrupts motor behavior and cerebellar climbing fiber (CF) architecture from as early as 4 weeks of age.
Mohamed F. Ibrahim, Emmet M. Power, Kay Potapov, Ruth M. Empson   +3 more
doaj   +1 more source

Quantitative susceptibility mapping of basal ganglia iron is associated with cognitive and motor functions that distinguish spinocerebellar ataxia type 6 and type 3. [PDF]

Front Neurosci, 2022
Marvel CL, Chen L, Joyce MR, Morgan OP, Iannuzzelli KG, LaConte SM, Lisinski JM, Rosenthal LS, Li X.   +8 more
europepmc   +1 more source

Erratum to: Clinical and neuroimaging study of spinocerebellar ataxia type 2

Chinese Journal of Contemporary Neurology and Neurosurgery, 2013
The article "Clinical and neuroimaging study of spinocerebellar ataxia type 2" ［1］ published in Issue 6, Volume 13, 2013 has following corrections: 1) Page 525, Line 6 of Chinese Abstract; 2) Page 525, Line 10 of English Abstract; 3) Page 526, Line 19 on
Editorial Office of Chinese Journal of C Editorial Office of Chinese Journal of Contemporary Neurology and Neurosurgery
doaj  

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

Brazilian Journal of Medical and Biological Research, 2010
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life.
R.C.R. Silva, J.A.M. Saute, A.C.F. Silva, A.C.O. Coutinho, M.L. Saraiva-Pereira, L.B. Jardim   +5 more
doaj  

Antibody-assisted selective isolation of Purkinje cell nuclei from mouse cerebellar tissue

Cell Reports: Methods
Summary: We developed a method that utilizes fluorescent labeling of nuclear envelopes alongside cytometry sorting for the selective isolation of Purkinje cell (PC) nuclei.
Luke C. Bartelt, Mouad Fakhri, Grazyna Adamek, Magdalena Trybus, Anna Samelak-Czajka, Paulina Jackowiak, Agnieszka Fiszer, Craig B. Lowe, Albert R. La Spada, Pawel M. Switonski   +9 more
doaj   +1 more source

Spinocerebellar Ataxia Type 6: A Disorder of Connectivity? [PDF]

J Neurosci, 2020
Teaford M.
europepmc   +1 more source