FCMD Fukuyama-type congenital muscular dystrophy FKRP Fukutin-related protein LCH lissencephaly with cerebellar hypoplasia LDL low-density lipoprotein MEB muscle–eye–brain Nud nuclear distribution locus VLDLR very low-density lipoprotein receptor WWS Walker–Warburg syndrome
نویسندگان
چکیده
Lissencephaly, which means ‘smooth cortex’, is caused by defective neuronal migration during development of the cerebral cortex and has devastating clinical consequences. ‘Classical’ lissencephaly seems to reflect mutations in regulators of the microtubule cytoskeleton, whereas ‘cobblestone’ lissencephaly is caused by mutations in genes needed for the integrity of the basal lamina of the central nervous system. Reelin, which is mutated in a third type of lissencephaly, may represent a unifying link because it encodes an extracellular protein that regulates neuronal migration and may also regulate the microtubule cytoskeleton.
منابع مشابه
Fukuyama-type Congenital Muscular Dystrophy and Abnormal Glycosylation of α-Dystroglycan
Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), and muscle-eye-brain (MEB) disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We identified the gene for FCMD and MEB, which encodes the fukutin protein and the protein O-linked mannose β1, 2-N-acetylglucosaminyltransferas...
متن کامل1 Alpha - Dystroglycanopathy
Alpha-dystroglycanopathies are a clinically and genetically heterogenous group of muscular dystrophies characterized by the reduced or absent glycosylation of alpha-dystroglycan (Muntoni et al., 2002). The hypoglycosylation of alpha-dystroglycan leads to decreased binding of its ligands, including laminin, agrin and perlecan in skeletal muscle and neurexin in the brain. The only known target fo...
متن کامل1 Alpha - Dystroglycanopathy Mieko
Alpha-dystroglycanopathies are a clinically and genetically heterogenous group of muscular dystrophies characterized by the reduced or absent glycosylation of alpha-dystroglycan (Muntoni et al., 2002). The hypoglycosylation of alpha-dystroglycan leads to decreased binding of its ligands, including laminin, agrin and perlecan in skeletal muscle and neurexin in the brain. The only known target fo...
متن کاملGlycosylation defects: a new mechanism for muscular dystrophy?
Recently, post-translational modification of proteins has been defined as a new area of focus for muscular dystrophy research by the identification of a group of disease genes that encode known or putative glycosylation enzymes. Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively. Fuku...
متن کاملMutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities. A similar combination of symptoms is presented by two other human diseases, muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). Although the genes underlying FCMD (Fukutin) and MEB (POMGnT1) have been...
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