نتایج جستجو برای: protein misfolding

تعداد نتایج: 1235138  

2016
Anupama K. Puppala Rachel L. French Doreen Matthies Ulrich Baxa Sriram Subramaniam Miljan Simonović

Selenocysteine synthase (SepSecS) catalyzes the terminal reaction of selenocysteine, and is vital for human selenoproteome integrity. Autosomal recessive inheritance of mutations in SepSecS-Ala239Thr, Thr325Ser, Tyr334Cys and Tyr429*-induced severe, early-onset, neurological disorders in distinct human populations. Although harboring different mutant alleles, patients presented remarkably simil...

Journal: :Protein engineering, design & selection : PEDS 2008
Matthew D Tobelmann Robert L Kerby Regina M Murphy

Huntington's disease is one of nine known neurodegenerative diseases in which a disease-specific protein contains an unusually long polyglutamine (polyQ) stretch. The proteins associated with each disease are unrelated in sequence, size, structure, function or location of the mutation. In all cases, there is an apparent critical number of glutamines below which individuals do not develop diseas...

2016
Lars Plate Ryan J Paxman R Luke Wiseman Jeffery W Kelly

Small molecules that modulate the unfolded protein response have the potential to treat a variety of human protein misfolding diseases.

2010
Jerson L. Silva Tuane C. R. G. Vieira Mariana P. B. Gomes Ana Paula Ano Bom Luis Mauricio T. R. Lima Monica S. Freitas Daniella Ishimaru Yraima Cordeiro Debora Foguel

Protein misfolding has been implicated in a large number of diseases termed protein- folding disorders (PFDs), which include Alzheimer's disease, Parkinson's disease, transmissible spongiform encephalopathies, familial amyloid polyneuropathy, Huntington's disease, and type II diabetes. In these diseases, large quantities of incorrectly folded proteins undergo aggregation, destroying brain cells...

Journal: :Frontiers in Molecular Biosciences 2019

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