Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family.

Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M., Saredi, S., et al. (2015). Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. ACTA NEUROPATHOLOGICA COMMUNICATIONS, 3(1), 44 [10.1186/s40478-015-0224-0].

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

D'APICE, MARIA ROSARIA;SANGIUOLO, FEDERICA CARLA;NOVELLI, GIUSEPPE;MASSA, ROBERTO;
2015

Abstract

Protein aggregation is a common cause of neuropathology. The protein aggregation myopathy Limb-Girdle Muscular Dystrophy 1D (LGMD1D) is caused by mutations of amino acids Phe89 or Phe93 of DNAJB6, a co-chaperone of the HSP70 anti-aggregation protein. Another DNAJB6 mutation, Pro96Arg, was found to cause a distal-onset myopathy in one family.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
Settore MED/26
English
Con Impact Factor ISI
Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M., Saredi, S., et al. (2015). Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. ACTA NEUROPATHOLOGICA COMMUNICATIONS, 3(1), 44 [10.1186/s40478-015-0224-0].
Ruggieri, A; Brancati, F; Zanotti, S; Maggi, L; Pasanisi, M; Saredi, S; Terracciano, C; Antozzi, C; D'Apice, Mr; Sangiuolo, Fc; Novelli, G; Marshall, C; Scherer, S; Morandi, L; Federici, L; Massa, R; Mora, M; Minassian, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/119701
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