CMTX Disorder and CamKinase
نویسندگان
چکیده
1 Laboratoire d’Innovation Thérapeutique, Faculté de Pharmacie, UMR7200, Centre National de la Recherche Scientifique, Université de Strasbourg, Strasbourg, France, 2 Department of Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Muenster, Germany, 3 Department of Neurology, Aachen RWTH University Clinic, Aachen, Germany, 4 Nutrition, Obesity and Risk of Thrombosis Laboratory, UMR Institut National de la Santé et de la Recherche Médicale 1062,
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متن کاملX-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter.
Charcot-Marie-Tooth neuropathy (CMT) is an inherited degenerative disorder of the peripheral nervous system that results in slowly progressive distal muscle weakness, atrophy and loss of proprioception in the affected areas. X-linked CMT (CMTX) has been localized to the pericentric region of the X chromosome. CMTX neuropathy is usually associated with mutations in exon 2 of the gap junction pro...
متن کاملPurification and characterization of a Ca2+/calmodulin-dependent protein kinase II from hog gastric mucosa using a protein-protein affinity chromatographic technique.
A peripheral member of the Ca2+/calmodulin-dependent protein kinase II (CaMkinase II) group has been purified from hog gastric mucosa with the use of a novel affinity-chromatographic step. For the well known neural isotypes of CaMkinase II, it is proposed that the subunits form holoenzymes through a specific domain at the C-terminus called the 'association domain'. We immobilized a bacterially ...
متن کاملA V139M mutation also causes the reversible CNS phenotype in CMTX.
X-linked Charcot Marie Tooth disease (CMTX; OMIM # 320800) is the second most common cause of inherited demyelinating neuropathy and is caused by mutations in the GJB1 ( also referred to as connexin 32) gene coding for the gap junction protein connexin 32 (Cx32). Cx32 is expressed in the myelinating Schwann cells in the peripheral nervous system (PNS) and in oligodendrocytes in the central nerv...
متن کاملX-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
X-linked dominant Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene. We performed a mutation analysis of Cx32 by direct sequencing of the coding sequence, then identified 23 mutations from 28 Korean CMTX families. Nine mutations were not reported previously: Gly5Ser, Ser26fs, Val37Leu, Thr86Ile, Val152fs, Phe153Cys, ...
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