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A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
- A. Nishimura, M. Mitne-Neto, M. Zatz
- Biology, PsychologyAmerican journal of human genetics
- 1 November 2004
Data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking, and haplotype analysis suggests a founder effect.
The genome sequence of the plant pathogen Xylella fastidiosa
The complete genome sequence of X. fastidiosa clone 9a5c is reported, providing direct evidence of phage-mediated horizontal gene transfer and indicating that the molecular basis for bacterial pathogenicity is both conserved and independent of host.
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
Isolation, Characterization, and Differentiation Potential of Canine Adipose-Derived Stem Cells
- N. Vieira, V. Brandalise, E. Zucconi, M. Secco, B. Strauss, M. Zatz
- Biology, MedicineCell transplantation
- 1 March 2010
Like human lipoaspirate, canine adipose tissue may also contain multipotent cells and represent an important stem cell source both for veterinary cell therapy as well as preclinical studies.
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
It is found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD.
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
Using a positional cloning approach, the gene for a form of limb-girdle muscular dystrophy that was previously mapped to chromosome 2p13 (LGMD2B) is identified and the proposed name `dysferlin' combines the role of the gene in producing muscular Dystrophy with its C. elegans homology.
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
Three mutations in the KIAA0196 gene are identified in six families that map to the SPG8 locus and likely have a notable effect on the structure of the protein product strumpellin.
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
- A. Nishimura, M. Mitne-Neto, H. Silva, J. R. Oliveira, M. Vainzof, M. Zatz
- Biology, PsychologyJournal of Medical Genetics
- 1 April 2004
A Caucasian Brazilian family with 26 members distributed in three generations affected by a late onset autosomal dominant motor neurone disease is reported, and clinical and neurological examination of 11 living members was compatible with the diagnosis.
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
The data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.