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Dystonin

BPAG1, Dystonia Musculorum, bullous pemphigoid antigen 1, Bullous pemphigoid antigen
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: HAD, Actin, Phosphogluconate Dehydrogenase, CAN, ACID
Papers using BPAG1 antibodies
The BPAG1 locus
Supplier
Liem Ronald K.H. et al., In The Journal of Cell Biology, 1997
... cDNAs of BPAG1-a and BPAG1-b were obtained from QUICK-Clone™ cDNA (CLONTECH Laboratories, Inc.) by PCR ...
Papers on BPAG1
Hemidesmosomes: how much plakins do they need?
New
Has, Freiburg, Germany. In Exp Dermatol, Feb 2016
In stratified and pseudostratified epithelia, the structural components of hemidesmosomes belong to four protein families - plakins (the bullous pemphigoid antigen 1 (BPAG1) and plectin), integrins (α6β4), collagens (collagen XVII) and tetraspanins (CD151) (2).
One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.
Review
New
Borradori et al., Bern, Switzerland. In Exp Dermatol, Jan 2016
The latter, now called dystonin (DST), is composed of at least 100 exons and gives rise to three major isoforms, an epithelial, a neuronal and a muscular isoform, named BPAG1e (corresponding to the original BP230), BPAG1a and BPAG1b, respectively.
Functional and Genetic Analysis of Neuronal Isoforms of BPAG1.
New
Kothary et al., Ottawa, Canada. In Methods Enzymol, Dec 2015
The neuronal isoforms of bullous pemphigoid antigen 1 (BPAG1, and also known as dystonin) are a group of large cytoskeletal linker proteins predominantly expressed in sensory neurons.
Molecular architecture and function of the hemidesmosome.
Review
New
Wiche et al., London, United Kingdom. In Cell Tissue Res, Jun 2015
Other important components are BPAG1e, the epithelial isoform of bullous pemphigoid antigen 1, BPAG2, a collagen-type transmembrane protein and CD151.
Molecular architecture and function of the hemidesmosome.
Review
New
Wiche et al., London, United Kingdom. In Cell Tissue Res, May 2015
Other important components are BPAG1e, the epithelial isoform of bullous pemphigoid antigen 1, BPAG2, a collagen-type transmembrane protein and CD151.
IgE autoantibodies in bullous pemphigoid: supporting role, or leading player?
Review
New
Ujiie, Sapporo, Japan. In J Dermatol Sci, Apr 2015
Bullous pemphigoid (BP) is a common autoimmune blistering skin disease in which two hemidesmosomal components--the transmembrane collagen XVII (BP180 or BPAG2) and the plakin family protein BP230 (BPAG1)--are targeted by autoimmunity.
A retrospective consecutive case-series study on the effect of systemic treatment, length of admission time, and co-morbidities in 98 bullous pemphigoid patients admitted to a tertiary centre.
New
Vestergaard et al., Århus, Denmark. In Acta Derm Venereol, Mar 2015
Bullous pemphigoid (BP) is a common blistering disease caused by antibodies directed against hemi-desmosomal proteins BPAG1 and BPAG2.
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
Kothary et al., Ottawa, Canada. In Hum Mol Genet, 2014
A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST).
Update on the pathogenesis of bullous pemphigoid: an autoantibody-mediated blistering disease targeting collagen XVII.
Review
Nishie, Sapporo, Japan. In J Dermatol Sci, 2014
Autoantibodies (autoAbs) from BP patients react with two hemidesmosomal components: transmembrane collagen XVII (BP180 or BPAG2) and plakin family protein BP230 (BPAG1).
BPAG1a and b associate with EB1 and EB3 and modulate vesicular transport, Golgi apparatus structure, and cell migration in C2.7 myoblasts.
Borradori et al., Bern, Switzerland. In Plos One, 2013
BPAG1a and BPAG1b (BPAG1a/b) constitute two major isoforms encoded by the dystonin (Dst) gene and show homology with MACF1a and MACF1b.
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.
GeneRIF
Elpeleg et al., Jerusalem, Israel. In Ann Neurol, 2012
This is the first report of a defect in the neuronal isoform of dystonin in humans.
Microtubule stability, Golgi organization, and transport flux require dystonin-a2-MAP1B interaction.
GeneRIF
Kothary et al., Ottawa, Canada. In J Cell Biol, 2012
novel functions of the dystonin-a2 isoform in mediating microtubule stability, Golgi organization, and flux through the secretory pathway.
Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function.
GeneRIF
Kothary et al., Ottawa, Canada. In Mol Biol Cell, 2012
This study provides insight into the mechanism of dt neuropathology and proposes a role for dystonin-a2 as a mediator of normal ER structure and function.
MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin.
GeneRIF
Kothary et al., Ottawa, Canada. In J Proteome Res, 2011
Microtubule associated protein 1B, a microtubule stabilizing protein, and clathrin heavy chain, the major component of the clathrin triskelion, were identified as interaction partners for dystonin-a
Type XVII collagen regulates lamellipod stability, cell motility, and signaling to Rac1 by targeting bullous pemphigoid antigen 1e to alpha6beta4 integrin.
GeneRIF
Jones et al., Chicago, United States. In J Biol Chem, 2011
in motile cells Col XVII recruits BPAG1e to alpha6beta4 integrin and is necessary for activation of signaling pathways, motile behavior, and lamellipodial stability.
An induction gene trap for identifying a homeoprotein-regulated locus.
Impact
Volovitch et al., Paris, France. In Nat Biotechnol, 2000
One is within the bullous pemphigoid antigen 1 (BPAG1) locus, in a region that interrupts two neural isoforms.
Integrators of the cytoskeleton that stabilize microtubules.
Impact
Fuchs et al., Chicago, United States. In Cell, 1999
Sensory neurodegeneration occurs in mice defective in BPAG1, a gene encoding cytoskeletal linker proteins capable of anchoring neuronal intermediate filaments to actin cytoskeleton.
An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments.
Impact
Fuchs et al., Chicago, United States. In Cell, 1996
Typified by rapid degeneration of sensory neurons, dystonia musculorum mice have a defective BPAG1 gene, known to be expressed in epidermis.
The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1.
Impact
Kothary et al., Montréal, Canada. In Nat Genet, 1995
Dystonin encodes an N-terminal actin binding domain and a C-terminal portion comprised of the hemidesmosomal protein, bullous pemphigoid antigen 1 (bpag1).
Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration.
Impact
Fuchs et al., Chicago, United States. In Cell, 1995
Unexpectedly, the mice also develop severe dystonia and sensory nerve degeneration typical of dystonia musculorum (dt/dt) mice.
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