Results 161 to 170 of about 1,792 (176)

The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin

Neuroscience, 2006
The vagal and glossopharyngeal sensory ganglia and their peripheral tissues were examined in wild type and dystonia musculorum mice to assess the effect of dystonin loss of function on chemoreceptive neurons. In the mutant mouse, the number of vagal and glossopharyngeal sensory neurons was severely decreased (70% reduction) when compared with wild type
H, Ichikawa, Y, De Repentigny, R, Kothary, T, Sugimoto   +3 more
exaly   +3 more sources

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

British Journal of Dermatology, 2014
Only two homozygous nonsense mutations in the epidermal isoform of the dystonin gene, DST-e, have been reported previously in autosomal recessive epidermolysis bullosa simplex (EBS); the affected pedigrees were Kuwaiti and Iranian. This subtype of EBS is therefore considered to be a rare clinicopathological entity.
Takeichi, T, Nanda, A, Liu, L, Aristodemou, S, McMillan, J R, Sugiura, K, Akiyama, M, Al-Ajmi, H, Simpson, M A, McGrath, J A   +9 more
openaire   +3 more sources

Cloning and Characterization of Mouse ACF7, a Novel Member of the Dystonin Subfamily of Actin Binding Proteins

Genomics, 1996
We have recently cloned the gene responsible for the mouse neurological disorder dystonia musculorum. The predicted product of this gene, dystonin (Dst), is a neural isoform of bullous pemphigoid antigen 1 (Bpag1) with an N-terminal actin binding domain. Here we report on the cloning and characterization of mouse ACF7.
Rashmi Kothary
exaly   +3 more sources

Dystonin Expression in the Developing Nervous System Predominates in the Neurons That Degenerate indystonia musculorumMutant Mice

Molecular and Cellular Neurosciences, 1995
Dystonia musculorum (dt) is an inherited neurodegenerative disorder in mice. The dt gene product, dystonin, contains the bullous pemphigoid antigen 1 coding region at its C-terminus and an actin binding domain at its N-terminus. We demonstrate that dystonin expression throughout mouse development predominates in neurons of the cranial and spinal ...
Arthur Brown, Gratien Dalpé, Yves De Repentigny   +2 more
exaly   +3 more sources

Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination

Development, 1998
ABSTRACT A central role for the Schwann cell cytoskeleton in the process of peripheral nerve myelination has long been suggested. However, there is no genetic or biological evidence as yet to support this assumption. Here we show that dystonia musculorum (dt) mice, which carry mutations in dystonin, a cytoskeletal crosslinker protein ...
G, Bernier, Y, De Repentigny, M, Mathieu, S, David, R, Kothary   +4 more
openaire   +2 more sources

Isoform-specific functions of the dystonin cytoskeletal organizing proteins

2013
Dystonin/Bpag 1 proteins, whose loss of function results in neuromuscular dysfunction in mice, have been implicated as being essential cytoskeletal organizing proteins in sensory neurons. How exactly they function as such is unclear, however. I have attempted to characterize the subcellular localizations and interactions of different dystonin isoforms ...
openaire   +2 more sources

Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt^24J

Biochemistry and Cell Biology, 1995
Dystonia musculorum is a hereditary mouse neurodegenerative disorder that primarily affects the sensory arm of the nervous system. We have recently cloned and identified a candidate gene for this disorder and designated it dystonin. The sequence of dystonin predicts a rod-shaped cytoskeletal-associated protein with an actin-binding domain at the N ...
G, Bernier, A, Brown, G, Dalpé, M, Mathieu, Y, De Repentigny, R, Kothary   +5 more
openaire   +2 more sources

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

Experimental Dermatology, 2016
Bertrand Favre, Luca Borradori
exaly  

Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function

Molecular Biology of the Cell, 2012
Scott D Ryan, Yves De Repentigny, Rashmi Kothary   +2 more
exaly  

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

Human Molecular Genetics, 2014
Yves De Repentigny, Anisha Lynch-Godrei, Samantha F Kornfeld   +2 more
exaly