PMP22 overexpression causes dysmyelination in mice
نویسندگان
چکیده
منابع مشابه
PMP22 overexpression causes dysmyelination in mice.
Charcot-Marie-Tooth (CMT) disease is the most frequent hereditary peripheral neuropathy in humans. Its prevalence is about one in 2500. A subform, CMT1A, is transmitted as an autosomal dominant trait. An estimated 75% of patients are affected. This disorder has been shown to be associated with the duplication of a 1.5 Mb region of the short arm of chromosome 17, in which the PMP22 gene has been...
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Cockayne syndrome (CS) is a rare autosomal recessive neurodegenerative disease that is associated with mutations in either of two transcription-coupled DNA repair genes, CSA or CSB. Mice with a targeted mutation in the Csb gene (Cs-b(m/m)) exhibit a milder phenotype compared with human patients with mutations in the orthologous CSB gene. Mice mutated in Csb were crossed with mice lacking Xpc (X...
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متن کاملPMP22 exon 4 deletion causes ER retention of PMP22 and a gain‐of‐function allele in CMT1E
OBJECTIVE To determine whether predicted fork stalling and template switching (FoSTeS) during mitosis deletes exon 4 in peripheral myelin protein 22 KD (PMP22) and causes gain-of-function mutation associated with peripheral neuropathy in a family with Charcot-Marie-Tooth disease type 1E. METHODS Two siblings previously reported to have genomic rearrangements predicted to involve exon 4 of PMP...
متن کاملDistal axonopathy in peripheral nerves of PMP22-mutant mice.
A partial duplication of chromosome 17 is associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a demyelinating peripheral neuropathy that causes progressive distal muscle atrophy and sensory impairment. Trisomic expression of peripheral myelin protein 22 (PMP22) whose gene is contained within the duplicated region is considered to be responsible for the disease. By using recombinant gen...
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ژورنال
عنوان ژورنال: Brain
سال: 2002
ISSN: 1460-2156
DOI: 10.1093/brain/awf230