Results 21 to 30 of about 9,196 (170)
Novel polyglutamine model uncouples proteotoxicity from aging. [PDF]
PLoS ONE, 2014 Polyglutamine expansions in certain proteins are the genetic determinants for nine distinct progressive neurodegenerative disorders and resultant age-related dementia.
Nakeirah T M Christie +4 more
doaj +1 more source
Biomedicines, 2023 Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima +14 more
doaj +1 more source
Reviewing the Structure–Function Paradigm in Polyglutamine Disorders: A Synergistic Perspective on Theoretical and Experimental Approaches [PDF]
International Journal of Molecular SciencesSanda Nastasia Moldovean
exaly +1 more source
A new Caenorhabditis elegans model of human huntingtin 513 aggregation and toxicity in body wall muscles. [PDF]
PLoS ONE, 2017 Expanded polyglutamine repeats in different proteins are the known determinants of at least nine progressive neurodegenerative disorders whose symptoms include cognitive and motor impairment that worsen as patients age.
Amy L Lee +3 more
doaj +1 more source
Biomedicines, 2021 Polyglutamine (polyQ) ataxias are a heterogenous group of neurological disorders all caused by an expanded CAG trinucleotide repeat located in the coding region of each unique causative gene.
Craig S. McIntosh +3 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2019 Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene ...
Eleni Kourkouta +10 more
doaj +1 more source
CAG-encoded polyglutamine length polymorphism in the human genome
BMC Genomics, 2007 Background Expansion of polyglutamine-encoding CAG trinucleotide repeats has been identified as the pathogenic mutation in nine different genes associated with neurodegenerative disorders.
Hayden Michael R +13 more
doaj +1 more source
Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders [PDF]
Human Molecular Genetics, 1997 INTRODUCTION Disorders caused by triplet expansions present unique challengesfor understanding and correlating the genotype with the clinicalphenotype. Currently, there is some confusion over ranges fornormal and disease alleles and regarding understanding ofpenetrance and intermediate alleles.
S E, Andrew, Y P, Goldberg, M R, Hayden
openaire +2 more sources
The ubiquitin-proteasome reporter GFPu does not accumulate in neurons of the R6/2 transgenic mouse model of Huntington's disease. [PDF]
PLoS ONE, 2009 Impairment of the ubiquitin-proteasome system (UPS) has long been considered an attractive hypothesis to explain the selective dysfunction and death of neurons in polyglutamine disorders such as Huntington's disease (HD).
John S Bett +3 more
doaj +1 more source
No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia [PDF]
Molecular Psychiatry, 1997 Several recent studies have suggested that expanded CAG repeats may contribute to the genetic transmission of bipolar disorder and schizophrenia. In all known disorders associated with expanded CAG repeats, the repeat sequence is translated into glutamine.
A L, Jones +8 more
openaire +2 more sources