Publications by authors named "Isabella Mura"

Article Synopsis
  • Spinocerebellar ataxias (SCAs) are genetic neurodegenerative disorders linked to mutations in various genes, and SCA38 was specifically mapped to chromosome 6p in an Italian family through whole-genome analysis.
  • A single missense mutation in the ELOVL5 gene was found to be present in multiple SCA-affected families, indicating a common ancestry, while another variant was identified in a French family.
  • ELOVL5 plays a crucial role in producing essential fatty acids; affected individuals showed reduced levels of important fatty acids in their serum, highlighting the connection between fatty acid metabolism and neurological health.
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We describe a sib recurrence for achondroplasia with parents of average stature. The three sibs shared the paternal allele and all carried the same causal mutation in the fibroblast growth factor receptor 3 gene (FGFR3): G > A nt1138 (Gly380Arg). We were able to identify this mutation on sperm DNA confirming paternal germinal mosaicism.

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EMILINs constitute a family of genes of the extracellular matrix with high structural similarity. Four genes have been identified so far in human and mouse. To gain insight into the function of this gene family, EMILIN-1 has been inactivated in the mouse by gene targeting.

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Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities and severe brain malformations. We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase 1 gene (POMT1). alpha-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves.

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