Cytoskeletal Linker Protein Dystonin Is Not Critical to Terminal Oligodendrocyte Differentiation or CNS Myelination. [PDF]
PLoS ONE, 2016 Oligodendrocyte differentiation and central nervous system myelination require massive reorganization of the oligodendrocyte cytoskeleton. Loss of specific actin- and tubulin-organizing factors can lead to impaired morphological and/or molecular ...
Samantha F Kornfeld +5 more
doaj +5 more sources
Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice [PDF]
Disease Models & Mechanisms, 2020 Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS).
Nozomu Yoshioka +11 more
doaj +4 more sources
Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia. [PDF]
Cureus, 2023 We report a case of a 3-year-old Saudi female patient as the first case reported in Saudi Arabia who is homozygous for dystonin c.3370C>T, p.(Gln1124*). At the age of 3 months, the girl started to develop numerous vesicles and bullae involving the dorsum of the feet that were not on a pressure site, with remission and aggravation, but she had no ...
Al Towijry M +4 more
europepmc +5 more sources
Axonopathy in the central nervous system is the hallmark of mice with a novel intragenic null mutation of dystonin. [PDF]
Genetics, 2016 Dystonia musculorum is a neurodegenerative disorder caused by a mutation in the dystonin gene. It has been described in mice and humans where it is called hereditary sensory autonomic neuropathy. Mutated mice show severe movement disorders and die at the
Baumgärtner, W. +10 more
core +8 more sources
Two missense mutations in Dystonin lead to epidermolysis bullosa simplex complicated with lepromatous leprosy: a case report. [PDF]
AME Case RepEpidermolysis bullosa (EB) is a severe, single-gene hereditary skin condition characterized by blisters, bullae, and erosion following minor trauma. Epidermolysis bullosa simplex (EBS), one of the four major types of EB, is typically caused by mutations in the KRT5 or KRT14 genes. However, mutations in the Dystonin (DST) gene, which is also involved in
Al-Quran L, Cai G, Chen R, Chen Y.
europepmc +4 more sources
Dystonin loss-of-function leads to impaired autophagosome–endolysosome pathway dynamics
Biochemistry and Cell Biology, 2020 The neuronal dystonin protein (DST-a) is a large cytoskeletal linker important for integrating the various components of the cytoskeleton. Recessive Dst mutations lead to a sensory neuropathy in mice, known as dystonia musculorum (Dstdt). The disease is characterized by ataxia, autonomic disturbances, and ultimately, death, which are associated with ...
Anisha Lynch‐Godrei +4 more
openalex +4 more sources
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy [PDF]
Neurology Genetics, 2020 To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination.Whole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/complementary DNA analysis of transcripts to characterize the effects of ...
William W. Motley +2 more
openalex +3 more sources
Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI [PDF]
Neurology, 2017 To describe a second hereditary sensory autonomic neuropathy type VI (HSAN-VI) family harboring 2 novel heterozygous mutations in the dystonin (DST) gene and to evaluate their effect on neurons derived from induced pluripotent stem cells (iPSC).The family consisted of 3 affected siblings from nonconsanguineous healthy parents.
Fiore Manganelli +14 more
openalex +5 more sources
Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function
Molecular Biology of the Cell, 2011 Dystonin/Bpag1 is a cytoskeletal linker protein whose loss of function in dystonia musculorum (dt) mice results in hereditary sensory neuropathy. Although loss of expression of neuronal dystonin isoforms (dystonin-a1/dystonin-a2) is sufficient to cause dt pathogenesis, the diverging function of each isoform and what pathological mechanisms are ...
Scott D. Ryan +7 more
openalex +4 more sources
The Barrier Molecules Junction Plakoglobin, Filaggrin, and Dystonin Play Roles in Melanoma Growth and Angiogenesis [PDF]
Annals of Surgery, 2019 Objective: To understand role of barrier molecules in melanomas. Background: We have reported poor patient survival and low immune infiltration of melanomas that overexpress a set of genes that include filaggrin (FLG), dystonin (DST), junction plakoglobin (JUP), and plakophilin-3 ...
Katie M. Leick +10 more
openalex +4 more sources