Hsp70 and Hsp40 inhibit an inter-domain interaction necessary for transcriptional activity in the androgen receptor. [PDF]
, 2019 Molecular chaperones such as Hsp40 and Hsp70 hold the androgen receptor (AR) in an inactive conformation. They are released in the presence of androgens, enabling transactivation and causing the receptor to become aggregation-prone.
Banduseela, Varuna C +19 more
core +2 more sources
Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease
Annals of Indian Academy of Neurology, 2012 Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed.
Pedro Enrique Jiménez Caballero
doaj +1 more source
Targeted Molecular Therapies for SBMA [PDF]
, 2015 Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy.
Greensmith, L, Malik, B, Rinaldi, C
core +1 more source
Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy [PDF]
Hormones and Behavior, 2008 Kennedy Disease/Spinal Bulbar Muscular Atrophy (KD/SBMA) is a progressive neurodegenerative disease caused by genetic polyglutamine expansion of the androgen receptor. We have recently found that overexpression of wildtype androgen receptor in skeletal muscle of transgenic mice results in a KD/SBMA phenotype.
Douglas Ashley, Monks +5 more
openaire +2 more sources
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]
, 2015 OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T +33 more
core +1 more source
Esclerose lateral amiotrófica: considerações sobre critérios diagnósticos [PDF]
, 2010 Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder, compromising the motor neuron, characterized by progressive muscle weakness, with reserved prognosis. The diagnosis is based on inclusion and exclusion clinical criteria, since there is
Chieia, Marco A. +3 more
core +3 more sources
Developing treatment for spinal and bulbar muscular atrophy [PDF]
Progress in Neurobiology, 2012 Spinal and bulbar muscular atrophy is unique among the polyglutamine diseases in that the toxicity of the mutant protein, the androgen receptor, is ligand-dependent. In cell culture and animal models the mutant androgen receptor causes protein aggregation and alterations in transcriptional regulation, axonal transport, and mitochondrial function ...
openaire +2 more sources
Direct conversion of human pluripotent stem cells into cranial motor neurons using a piggyBac vector [PDF]
, 2018 Human pluripotent stem cells (PSCs) are widely used for in vitro disease modeling. One of the challenges in the field is represented by the ability of converting human PSCs into specific disease-relevant cell types.
De Santis, Riccardo +5 more
core +2 more sources
Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy. [PDF]
PLoS ONE, 2015 Spinal and bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles.
Wang Ni +4 more
doaj +1 more source
Founder effect in spinal and bulbar muscular atrophy (SBMA) [PDF]
Human Molecular Genetics, 1996 We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range
F, Tanaka +9 more
openaire +2 more sources