Results 31 to 40 of about 30,328 (180)
The role of ubiquitination in spinal and bulbar muscular atrophy
Frontiers in Molecular Neuroscience, 2022 Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene.
Medha Sengupta +2 more
doaj +1 more source
SWI/SNF senses carbon starvation with a pH-sensitive low-complexity sequence
eLife, 2022 It is increasingly appreciated that intracellular pH changes are important biological signals. This motivates the elucidation of molecular mechanisms of pH sensing.
J Ignacio Gutierrez +7 more
doaj +1 more source
Biochemistry Research International, 2012 Huntington’s disease is a progressive neurodegenerative disease, caused by a polyglutamine expansion in the huntingtin protein. A prominent hallmark of the disease is the presence of intracellular aggregates initiated by N-terminal huntingtin fragments ...
Sabine Schipper-Krom +2 more
doaj +1 more source
Autophagy Modulation as a Treatment of Amyloid Diseases
Molecules, 2019 Amyloids are fibrous proteins aggregated into toxic forms that are implicated in several chronic disorders. More than 30 diseases show deposition of fibrous amyloid proteins associated with cell loss and degeneration in the affected tissues.
Zoe Mputhia +5 more
doaj +1 more source
Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Cells, 2022 Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal
Caterina Marchioretti +5 more
doaj +1 more source
Letter to the editor: autoimmune pathogenic mechanisms in Huntington’s disease [PDF]
, 2018 Letter to the Editor: Autoimmune pathogenic mechanisms in Huntington's ...
DE VINCENTIIS, Marco +5 more
core +1 more source
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]
, 2017 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert +18 more
core +3 more sources
Cells, 2021 Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson +4 more
doaj +1 more source
Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model. [PDF]
, 2016 The highly conserved cochaperone DnaJ/Hsp40 family proteins are known to interact with molecular chaperone Hsp70, and can regulate many cellular processes including protein folding, translocation, and degradation.
Jin, Yishi, Takayanagi-Kiya, Seika
core +2 more sources
Intrabody Gene Therapy Ameliorates Motor, Cognitive, and Neuropathological Symptoms in Multiple Mouse Models of Huntington's Disease [PDF]
, 2009 Huntington's disease (HD) is an autosomal dominant neurodegenerative disease resulting from the expansion of a glutamine repeat in the huntingtin (Htt) protein.
Ko, Jan +2 more
core +2 more sources