Results 151 to 160 of about 1,792 (176)

Dystonin-Deficient Mice Exhibit an Intrinsic Muscle Weakness and an Instability of Skeletal Muscle Cytoarchitecture

Developmental Biology, 1999
Dystonia musculorum (dt) was originally described as a hereditary sensory neurodegeneration syndrome of the mouse. The gene defective in dt encodes a cytoskeletal linker protein, dystonin, that is essential for maintaining neuronal cytoskeletal integrity.
Gratien Dalpé, Yves De Repentigny, Rashmi Kothary   +2 more
exaly   +4 more sources

Impact of Bpag1/dystonin crosslinking protein deficiency in cardiac tissue

The FASEB Journal, 2007
Cytoarchitectural disruptions of cardiac tissue often lead to various forms of cardiomyopathies. In the present investigation, we determine whether a deficiency in bullous pemphigoid antigen1 (Bpag1)/dystonin crosslinking proteins causes cardiac defects in mice. Morphological parameters such as heart weight/body weight ratios, left
Justin G. Boyer, Céline Boudreau‐Larivière   +1 more
openalex   +2 more sources

Dystonin/BPAG1 modulates diabetes and Alzheimer’s disease cross-talk: a meta-analysis

Neurological Sciences, 2019
Dementia is one of the diabetic complications under intensive study. Alteration of synaptic adhesion protein (SAP) associates with neurological diseases, including Alzheimer's disease. However, the regulation of SAPs in the brain of diabetes mellitus remains elusive.
Jack Cheng, Hsin‐Ping Liu, Su‐Lun Hwang, Lee‐Fen Hsu, Wei‐Yong Lin, Fuu‐Jen Tsai   +5 more
openalex   +3 more sources

Cellular and Molecular Biology of Neuronal Dystonin

, 2012
Neuronal dystonin isoforms are giant cytoskeletal cross-linking proteins capable of interacting with actin and microtubule networks, protein complexes, membrane-bound organelles and cellular membranes. In the neuromuscular system, dystonin proteins are involved in maintaining cytoarchitecture integrity and have more recently been ascribed roles in ...
Andrew Ferrier, Justin G. Boyer, Rashmi Kothary   +2 more
openalex   +3 more sources

Disruption of dystonin in Schwann cells results in late‐onset neuropathy and sensory ataxia

Glia, 2020
AbstractDystonin (Dst) is a causative gene for Dystonia musculorum (dt) mice, which is an inherited disorder exhibiting dystonia‐like movement and ataxia with sensory degeneration. Dst is expressed in a variety of tissues, including the central nervous system and the peripheral nervous system (PNS), muscles, and skin.
Masao Horie, Nozomu Yoshioka, Satoshi Kusumi, Hiromi Sano, Masayuki Kurose, Izumi Watanabe‐Iida, M. Ibrahim Hossain, Satomi Chiken, Manabu Abe, Kensuke Yamamura, Kenji Sakimura, Atsushi Nambu, Masahiro Shibata, Hirohide Takebayashi   +13 more
openalex   +3 more sources

Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue

Brain Research, 2006
The anterior part of the tongue was examined in wild type and dystonia musculorum mice to assess the effect of dystonin loss on fungiform papillae. In the mutant mouse, the density of fungiform papillae and their taste buds was severely decreased when compared to wild type littermates (papilla, 67% reduction; taste bud, 77% reduction).
H. Ichikawa, Ryuji Terayama, T. Yamaai, Yves De Repentigny, Rashmi Kothary, Tomosada Sugimoto   +5 more
openalex   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

Annals of Neurology, 2012
AbstractIn 4 infants with a new lethal autonomic sensory neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identified a deleterious mutation in the DST gene, using homozygosity mapping followed by exome sequencing.
Simon Edvardson, Chaim Jalas, Orly Elpeleg   +2 more
exaly   +3 more sources

Dystonin Is Essential for Maintaining Neuronal Cytoskeleton Organization

Molecular and Cellular Neurosciences, 1998
The mouse neurological mutant dystonia musculorum (dt) suffers from a hereditary sensory neuropathy. We have previously described the cloning and characterization of the dt gene, which we named dystonin (Dst). We had shown that dystonin is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin-binding domain.
Gratien Dalpé, Anne Messer, Yves De Repentigny   +2 more
exaly   +4 more sources

A novel role for the cytoskeletal linker protein dystonin in the maintenance of microtubule stability and the regulation of ER-Golgi transport [PDF]

Bioarchitecture, 2012
Scott D Ryan, Rashmi Kothary
exaly   +2 more sources

Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons

Experimental Cell Research, 2008
Dystonin/Bpag1 proteins are cytoskeletal linkers whose loss of function in mice results in a hereditary sensory neuropathy with a progressive loss of limb coordination starting in the second week of life. These mice, named dystonia musculorum (dt), succumb to the disease and die of unknown causes prior to sexual maturity.
Rashmi Kothary
exaly   +3 more sources