Genomes and Genes
Affiliation: University of Trieste
- Telethonin and other new proteins of the Z-disc of skeletal muscleG Faulkner
International Centre for Genetic Engineering and Biotechnology, Padriciano, Trieste, Italy
IUBMB Life 51:275-82. 2001..A greater knowledge of Z-disc proteins and their interactions is essential for understanding their role in the structure and function of muscle...
- FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscleG Faulkner
International Centre for Genetic Engineering and Biotechnology, Padriciano 99, I 34012 Trieste, Padova, Italy
J Biol Chem 275:41234-42. 2000..Therefore, FATZ may be the first member of a small family of novel muscle proteins...
- ZASP: a new Z-band alternatively spliced PDZ-motif proteinG Faulkner
International Centre for Genetic Engineering and Biotechnology, I 34012 Trieste, Italy
J Cell Biol 146:465-75. 1999..The transcript coding for this Z-band alternatively spliced PDZ motif (ZASP) protein maps on chromosome 10q22.3-10q23.2, near the locus for infantile-onset spinocerebellar ataxia...
- Telethonin, a novel sarcomeric protein of heart and skeletal muscleG Valle
CRIBI Biotechnology Centre, Universita degli Studi di Padova, Padua, Italy
FEBS Lett 415:163-8. 1997..In human, telethonin maps at 17q12, adjacent to the phenylethanolamine N-methyltransferase gene...
- Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethoninE S Moreira
1 Centro de Estudos do Genoma Humano, Universidade de Sao Paulo, Sao Paulo, Brazil
Nat Genet 24:163-6. 2000..2 Mb. The gene encoding telethonin, a sarcomeric protein, lies within this candidate region. We have found that mutations in the telethonin gene cause LGMD 2G, identifying a new molecular mechanism for AR LGMD...
- Characterization of human skeletal muscle Ankrd2A Pallavicini
CRIBI Biotechnology Centre, Universita degli Studi di Padova, Via Ugo Bassi 58B, I 35121 Padua, Italy
Biochem Biophys Res Commun 285:378-86. 2001..This is particularly evident in dystrophic muscles, where the expression of Ankrd2 in slow fibers seems to be severely reduced...
- Intranuclear paracrystals observed in striated muscle specific LIM protein-deficient mouse cardiomyocytesM Muto
Department of Veterinary Surgery, Azabu University, Kanagawa, Japan
Microsc Res Tech 70:50-4. 2007..This is the first report of intranuclear paracrystals in cardiomyocytes, which appear to be unique to MLP(-/-) mice...
- Zaspopathy in a large classic late-onset distal myopathy familyR Griggs
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA
Brain 130:1477-84. 2007..Haplotype studies in this family and in five other unrelated families with European ancestry carrying the identical A165V mutation share common markers at the locus suggesting the existence of a founder mutation...
- Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys
Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 83, Boulevard de l Hopital, 75651 Paris, Cedex 13, France
Neuromuscul Disord 18:656-66. 2008..We conclude that MFMs ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs...