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

INTRODUCTION: 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,...

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Bibliografische gegevens
Gepubliceerd in:Acta Neuropathol Commun
Hoofdauteurs: Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R., Scherer, Stephen W., Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
Onderwerpen:
Research
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4513909/
https://ncbi.nlm.nih.gov/pubmed/26205529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-015-0224-0
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