Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives. - Wikidata - wikimedia - TriplyDB

Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

http://www.wikidata.org/entity/Q38045212

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New Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia Signaling Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review Structure prediction of polyglutamine disease proteins: comparison of methods.Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.PAS kinase is activated by direct SNF1-dependent phosphorylation and mediates inhibition of TORC1 through the phosphorylation and activation of Pbp1 Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.Intermediate CAG repeat expansion in the ATXN2 gene is a unique genetic risk factor for ALS--a systematic review and meta-analysis of observational studies.RNA-binding protein misregulation in microsatellite expansion disorders Dysfunctional Calcium and Glutamate Signaling in Striatal Astrocytes from Huntington's Disease Model Mice Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.Multiple system atrophy of the cerebellar type: clinical state of the art.Modulation of Molecular Chaperones in Huntington's Disease and Other Polyglutamine Disorders.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Nanoparticulate strategies for the treatment of polyglutamine diseases by halting the protein aggregation process.Translating cerebellar Purkinje neuron physiology to progress in dominantly inherited ataxia.Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.Modifications of resting state networks in spinocerebellar ataxia type 2.Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado-Joseph disease.The Multiple Faces of Spinocerebellar Ataxia type 2.Heritability of saccadic eye movements in spinocerebellar ataxia type 2: insights into an endophenotype marker.The progression rate of spinocerebellar ataxia type 2 changes with stage of disease.Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2.ATXN2-AS, a gene antisense to ATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis.C9orf72 and ATXN2 repeat expansions coexist in a family with ataxia, dementia, and parkinsonism.Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins.Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.Anti-Saccades in Cerebellar Ataxias Reveal a Contribution of the Cerebellum in Executive Functions.SCA2 presenting as a focal dystonia Roles of Post-translational Modifications in Spinocerebellar Ataxias Cuban Adolescents Requesting Presymptomatic Testing for Spinocerebellar Ataxia Type 2

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Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

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Molecular Neurobiology

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B Cisneros

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J J Magaña

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L Velázquez-Pérez

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P2860

A novel protein with RNA-binding motifs interacts with ataxin-2

Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

Cloning and characterization of a family of proteins associated with Mpl

Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Structural basis of binding of P-body-associated proteins GW182 and ataxin-2 by the Mlle domain of poly(A)-binding protein

Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death

Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

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