Results 91 to 100 of about 9,196 (170)

Inherited Neurodegenerative Disorders Caused by CAG/Polyglutamine Tract Expansions: Symposium Introduction

Brain Pathology, 1997
At the beginning of this decade, the American Association of Neurology decided that the 1990's should be labelled “the decade of the brain” for expected advances in our understanding of neurological disorders and neuroscience. By the end of this decade, clinicians and researchers who work in the field of inherited neurological disorders might well ...
A R, La Spada, A W, Clark
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PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Frontiers in Cellular Neuroscience, 2018
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene.
Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Katarina Manso, David Moore, Jon Warner, Mary B. Davis, Paola Giunti   +9 more
doaj   +1 more source

Inositol 1,4,5-Tripshosphate Receptor, Calcium Signaling, and Polyglutamine Expansion Disorders [PDF]

, 2010
Publisher Summary This chapter focuses on inositol 1,4,5-tripshosphate receptor (IP3R1), calcium signaling, and polyglutamine expansion disorders. The chapter illustrates that the mutant Huntingtin, ataxin-2, and ataxin-3 proteins specifically bind to the carboxy-terminal region of the type 1 IP3R1, an intracellular Ca2+ release channel.
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Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source

Distinct Behavioral and Neuropathological Abnormalities in Transgenic Mouse Models of HD and DRPLA

Neurobiology of Disease, 2001
Huntington's disease (HD) and Dentatorubral and pallidoluysian atrophy (DRPLA) are autosomal dominant, neurodegenerative disorders caused by the expansion of polyglutamine tracts in their respective proteins, huntingtin and atrophin-1. We have previously
Gabriele Schilling, Hyder A. Jinnah, Vicky Gonzales, Michael L. Coonfield, Yujin Kim, Jonathan D. Wood, Donald L. Price, Xiao-Jiang Li, Nancy Jenkins, Neal Copeland, Timothy Moran, Christopher A. Ross, David R. Borchelt   +12 more
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A triazole derivative elicits autophagic clearance of polyglutamine aggregation in neuronal cells

Drug Design, Development and Therapy, 2016
Chang Heng Hsieh,1 Li-Ching Lee,1 Wai-Yin Leong,1 Tsai-Chen Yang,1 Ching-Fa Yao,2 Kang Fang1 1Department of Life Science, 2Department of Chemistry, National Taiwan Normal University, Taipei, Taiwan Abstract: Trinucleotide CAG repeat expansion in the ...
Hsieh CH, Lee LC, Leong WY, Yang TC, Yao CF, Fang K   +5 more
doaj  

Polyglutamine tracts: no evidence of a major role in bipolar disorder [PDF]

Molecular Psychiatry, 1999
Turecki, G, Alda, M, Grof, P, Joober, R, Cavazzoni, P, Duffy, A, Grof, E, Ahrens, B, Berghöfer, A, Müller-Oerlinghausen, B, Dvoráková, M, Libigerová, E, Vojtechovský, M, Zvolský, P, Nilsson, A, Prochazka, H, Licht, R W, Rasmussen, N A, Schou, M, Vestergaard, P, Holzinger, A, Schumann, C, Thau, K, Rouleau, G A   +23 more
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ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders.

Neuron, 2002
The mechanisms of neurodegeneration in the CAG repeat polyglutamine diseases, including Spinal and Bulbar Muscular Atrophy (SBMA), Huntington's disease (HD), DentatoRubral and PallidoLuysian Atrophy (DRPLA), and Spino-Cerebellar Ataxia (SCA), have been controversial.
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Cystamine inhibits caspase activity. Implications for the treatment of polyglutamine disorders.

The Journal of biological chemistry, 2003
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an abnormally expended polyglutamine domain. There is no effective treatment for HD; however, inhibition of caspase activity or prevention of mitochondria dysfunction delays disease progression in HD mouse models.
Mathieu, Lesort, Matthew, Lee, Janusz, Tucholski, Gail V W, Johnson   +3 more
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