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hereditary sensory and motor neuropathy/tyrosine
L'enllaç es desa al porta-retalls
5 resultats
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.
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OBJECTIVE
To determine the molecular basis for autosomal dominant intermediate hereditary motor and sensory neuropathy (HMSN) in a four generation family. The gene defects in families with intermediate HMSN are not known, but it has been suggested that most have X linked HMSN.
METHODS
All
Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture.
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The Trembler-J (TrJ) mouse, containing a point mutation in the peripheral myelin protein 22 gene, is characterized by severe hypomyelination and is a representative model of Charcot-Marie-Tooth 1A disease/Dejerine-Sottas Syndrome. Previous studies have shown that protein kinase inhibitor K252a
A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
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A family with a hereditary peripheral neuropathy is presented. Pedigree analysis suggested X-linked dominant mode of inheritance. The index patient became symptomatic at the age of 12 years. Clinical examination at 14 years revealed footdrop on the left, bilateral pes cavus, slight atrophy of thenar
Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.
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The myotubularin (MTM) family constitutes one of the most highly conserved protein-tyrosine phosphatase subfamilies in eukaryotes. MTM1, the archetypal member of this family, is mutated in X-linked myotubular myopathy, whereas mutations in the MTM-related (MTMR)2 gene cause the type 4B1
Dichloroacetate-induced peripheral neuropathy.
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Dichloroacetate (DCA) has been the focus of research by both environmental toxicologists and biomedical scientists for over 50 years. As a product of water chlorination and a metabolite of certain industrial chemicals, DCA is ubiquitous in our biosphere at low μg/kg body weight daily exposure levels
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