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DST encodes a member of the plakin protein family of adhesion junction plaque proteins. Zusätzlich bieten wir Ihnen Dystonin Antikörper (17) und Dystonin Proteine (2) und viele weitere Produktgruppen zu diesem Protein an.
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A report on 2 novel heterozygous mutations in the dystonin (DST) gene from a family with hereditary sensory and autonomic neuropathy type VI. Induced-pluripotent stem cells findings suggest that the dystonin defect might alter proper development of the peripheral nerves
dystonin and bullous pemphigoid antigen 1 are encoded by the same gene but are different proteins with different diseases [review]
Two of the six genes (LAMA3 (zeige LAMA3 ELISA Kits) and DST) validated by quantitative RT-PCR for tumor-specific alternative splicing events
Results identify four families with autosomal recessive EBS from Kuwait in whom the skin fragility is caused by recurrent nonsense mutation in DST-4.
Circulating anti-BP230 autoantibodies are not correlated with severity of genital lichen sclerosis or itching.
A key role for BPAG1-e in regulating keratinocyte adhesion and migration and suggest a requirement for this protein in controlling functional switching between integrin types in epithelial cells.
Authors conclude that, during entry of herpes simplex virus 1, dystonin has a specific role in plus-ended transport of capsids from the centrosome to the nucleus.
study identifies dystonin, a cytoskeleton cross-linker involved in microtubule-based transport, as a binding partner of the HSV-1 protein pUL37, implicated in capsid transport; study provides insight into cellular requirements for HSV-1 capsid transport and identifies dystonin as a nonmotor protein part of transport machinery
There is a significantly enhanced ratio between the dynorphin A (zeige PDYN ELISA Kits) immunoreactive area and the whole area of the entopeduncular nucleus in genetically dystonic hamsters compared to controls.
This is the first report of a defect in the neuronal isoform of dystonin in humans.
oligodendrocytes do not have an intrinsic requirement for neuronal dystonin for differentiation and myelination.
Novel Dst(Gt) mice showed that a loss-of-function mutation in the actin-binding domain-containing Dystonin isoforms led to typical dystonia musculorum phenotypes
Restoration of dystonin-a2 expression in the nervous system prevented the disorganization of organelle membranes and microtubule networks in a mouse model of hereditary sensory and autonomic neuropathy.
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.
novel functions of the dystonin-a2 isoform in mediating microtubule stability, Golgi organization, and flux through the secretory pathway.
Microtubule associated protein 1B (zeige MAP1B ELISA Kits), a microtubule stabilizing protein, and clathrin heavy chain (zeige CLTC ELISA Kits), the major component of the clathrin triskelion, were identified as interaction partners for dystonin-a
dystonin does not significantly influence the structural organization of cardiac muscle fibers during early postnatal development
BPAG1-b was detectable in vitro and in vivo as a high molecular mass protein in striated (zeige NSDHL ELISA Kits) and heart muscle cells, co-localizing with alpha-actinin-2 (zeige ACTN2 ELISA Kits) and partially with the cytolinker plectin (zeige PLEC ELISA Kits) as well as with the intermediate filament protein desmin (zeige DES ELISA Kits).
BPAG1 has three kinds of cytoskeletal binding domains and seems to play an important role in linking the different types of cytoskeletons.
Transcripts for both neural isoforms of Bpag1 (a1 and a2) were detected in optic nerves and spinal cords of wild-type mice.
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.
, bullous pemphigoid antigen 1
, bullous pemphigoid antigen 1, isoforms 1/2/3/4/5/8-like
, bullous pemphigoid antigen 1, 230/240kDa
, dystonia musculorum protein
, hemidesmosomal plaque protein
, bullous pemphigoid antigen 1, isoforms 1/2/3/4
, bullous pemphigoid antigen 1, isoforms 6/7
, microtubule actin cross-linking factor 2