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PEX13 (ital) is mutated in complementation group 13 of the peroxisome-biogenesis disorders

Article Abstract:

The peroxisome-biogenesis disorders (PBDs) and PEX13 (ital), which is mutated in complementation group 13 of the peroxisome-biogenesis disorders, is discussed. PBDs are caused by defects in peroxisome assembly with one of the milder variants neonatal adrenoleukodystrophy (NALD), usually associated with partial defects in import of peroxisomal matrix proteins with type1/2 peroxisomal targeting signals. A patient with NALD, the only representative of complementation group 13 of the PBDs, is characterized.

United States, Australia, Netherlands, Statistical Data Included, Usage, Physiological aspects, Cellular signal transduction, Chromosome mapping, Genetic disorders, Peroxisomes, Adrenoleukodystrophy

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Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

Article Abstract:

Large-scale mutation analysis is performed in genes located between markers DXS8080 and DXS7132 to identify the X-linked infantile spinal muscular atrophy (XL-SMA). It is indicated that XL-SMA is part of a growing list of neurodegenerative disorders associated with defects in the ubiquitin-proteasome pathway and that synonymous C ->T transitions have the potential to affect gene expression.

Science & research, Health aspects, Gene mutations, Gene mutation, Nervous system, Spinal muscular atrophy, Neurodegenerative diseases

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