Results 111 to 120 of about 11,319 (157)

Establishment of a second-generation transgenic marmoset with germline transmission that models polyglutamine disease

Disease Models & Mechanisms
Eiko N. Minakawa, Kensuke Owari, Naotake Nogami, Terumi Nakatani, Masashi Koizumi, Akiyo Kawanobe, Yosuke Saga, Moeko Kudo, Satoru Noguchi, Takashi Hanakawa, Yuki Hori, Hidemi Numazawa, Toshihide Takeuchi, Yuko Katakai, Ryoichi Saito, Yoshitaka Nagai, Yuko Saito, Ikuo Tomioka, Kazuhiko Seki   +18 more
doaj   +1 more source

The Status and Future Directions of Treatments for Polyglutamine Spinocerebellar Ataxia: A Bibliometric and Visual Analysis. [PDF]

Curr Neuropharmacol
Ding S, Peng L, Chen Z, Dong M, Tang C, Gong Y, He L, Wu Q, Qiu R, Jiang H.   +9 more
europepmc   +1 more source

Hypothalamic Atrophy and Textural Changes in Polyglutamine Ataxias. [PDF]

Cerebellum
Rodrigues L, Rezende TJR, Martinez ARM, Massuyama B, Pedroso JL, Barsottini OGP, Iglesias JE, Appenzeller S, Rittner L, França MC.   +9 more
europepmc   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

Lipid Composition Drives Mutant Huntingtin Dimerization and Membrane Association: Insights from Computational Simulations. [PDF]

Molecules
Nicoara C, Criscuolo E, De Cristofaro A, Fezza F, Maccarrone M.   +4 more
europepmc   +1 more source

The Hsp40 cochaperone DNAJC7 regulates polyglutamine aggregation and exhibits context-dependent effects on polyglycine aggregation. [PDF]

J Biol Chem
Ramani B, Ehsani K, Kampmann M.
europepmc   +1 more source

Short CAG repeat variation as a regulatory factor in health and disease. [PDF]

Front Genet
Manjarrez JR.
europepmc   +1 more source

Polyglutamine-Expanded Ataxin-3 Accelerates CFTR Degradation Through K63-Linked Ubiquitination to Exacerbate Microglial Inflammation. [PDF]

ASN Neuro
Wang Z, Fan X, Bai B, Song M, Shi Y, Zhao Y, Xie P, Shi T, He C, Hu Y, Wu Q, Hou X.   +11 more
europepmc   +1 more source

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Polyglutamine diseases

Current Opinion in Neurobiology, 2022
Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders, presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse and cell studies of Huntington's disease have highlighted the role of DNA repair genes in somatic expansion of the CAG repeat region, modifying disease pathogenesis.
Emma L, Bunting, Joseph, Hamilton, Sarah J, Tabrizi   +2 more
openaire   +2 more sources

Polyglutamine Repeats in Neurodegenerative Diseases [PDF]

Annual Review of Pathology: Mechanisms of Disease, 2019
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We review the clinical, pathological, and biological features of these inherited disorders.
Roger L Albin, Vikram Shakkottai
exaly   +3 more sources