Results 81 to 90 of about 83,390 (218)

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, EarlyView.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source

Research progress of spinocerebellar ataxia type 1

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Spinocerebellar ataxia type 1 (SCA1) is a kind of autosomal dominant genetic neurodegenerative disorder. To date, the pathogenesis of SCA1 remains unclear.
Lin-wei ZHANG, Wei-hong GU
doaj  

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

PLoS ONE, 2017
BackgroundThe inositol 1,4,5-triphosphate (IP3) receptor type 1 gene (ITPR1) encodes the IP3 receptor type 1 (IP3R1), which modulates intracellular calcium homeostasis and signaling. Mutations in ITPR1 have been implicated in inherited cerebellar ataxias.
Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soong   +5 more
doaj   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, EarlyView.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

Arquivos de Neuro-Psiquiatria
Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features.
Carlos Roberto Martins Junior, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Júnior   +7 more
doaj   +1 more source

The Oldest Known Case of SCA6: Diagnostic Insights from a 101‐Year‐Old Woman with Progressive Ataxia

Movement Disorders Clinical Practice, EarlyView.
Nicolas Labaure, Katherine Longardner
wiley   +1 more source

Epigenetic analyses suggest different pathways during pregnancy for development of Type 1 diabetes in children with high versus low‐neutral human leukocyte antigen‐risk

Journal of Internal Medicine, EarlyView.
Abstract Background and objective The development of Type 1 diabetes (T1D) is shaped by genetic predisposition and epigenetic regulation. Human leukocyte antigen (HLA) risk alleles are major genetic determinants, but the epigenetic landscape in relation to disease onset remains unclear.
Shamila D. Alipoor, Angelica Ahrens, Julia Åkesson, Thomas Hillerton, Mika Gustafsson, Maria Lerm, Johnny Ludvigsson   +6 more
wiley   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

MR Imaging in Spinocerebellar Ataxias: A Systematic Review

American Journal of Neuroradiology, 2016
BACKGROUND AND PURPOSE: Polyglutamine expansion spinocerebellar ataxias are autosomal dominant slowly progressive neurodegenerative diseases with no current treatment.
A. Klaes, E. Reckziegel, M. França, T. Rezende, L. Vedolin, L. Jardim, J. Saute   +6 more
semanticscholar   +1 more source