Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy
MB Harms, RB Sommerville, P Allred, S Bell… - Annals of …, 2012 - Wiley Online Library
Objective: To identify the causative gene in an autosomal dominant limb‐girdle muscular
dystrophy (LGMD) with skeletal muscle vacuoles. Methods: Exome sequencing was used to …
dystrophy (LGMD) with skeletal muscle vacuoles. Methods: Exome sequencing was used to …
DNAJ proteins and protein aggregation diseases
V Kakkar, L CB Prins… - Current topics in medicinal …, 2012 - ingentaconnect.com
Many neurodegenerative diseases are late onset diseases, associated with aggregation of
proteins, implying that aged cells are more susceptible to proteotoxic stress. It is known that …
proteins, implying that aged cells are more susceptible to proteotoxic stress. It is known that …
Suppression of protein aggregation by chaperone modification of high molecular weight complexes
J Labbadia, SS Novoselov, JS Bett, A Weiss… - Brain, 2012 - academic.oup.com
Protein misfolding and aggregation are associated with many neurodegenerative diseases,
including Huntington's disease. The cellular machinery for maintaining proteostasis includes …
including Huntington's disease. The cellular machinery for maintaining proteostasis includes …
[HTML][HTML] Micro-RNA-632 downregulates DNAJB6 in breast cancer
DNAJB6 is a constitutively expressed member of the HSP40 family. It has been described as
a negative regulator of breast tumor progression and a regulator of epithelial phenotype …
a negative regulator of breast tumor progression and a regulator of epithelial phenotype …
The role of Huntingtin in fast axonal transport
KR Weiss - 2012 - dspace.mit.edu
Huntington's Disease (HD) is an autosomal dominant, neurodegenerative disease that
occurs when an expansion of the polyQ tract of the huntingtin gene expands to greater than …
occurs when an expansion of the polyQ tract of the huntingtin gene expands to greater than …