Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rocío Bengoechea"'
Autor:
Rocío Bengoechea, Olga Tapia, Iñigo Casafont, José Berciano, Miguel Lafarga, María T. Berciano
Publikováno v:
Neurobiology of Disease, Vol 46, Iss 1, Pp 118-129 (2012)
Nuclear speckles are essential nuclear compartments involved in the assembly, delivery and recycling of pre-mRNA processing factors, and in the post-transcriptional processing of pre-mRNAs. Oculopharyngeal muscular dystrophy (OPMD) is caused by a sma
Externí odkaz:
https://doaj.org/article/baadb5819e514ebdb57ed557f8b1bed9
Autor:
Andrew R. Findlay, May M. Paing, Jil A. Daw, Meade Haller, Rocio Bengoechea, Sara K. Pittman, Shan Li, Feng Wang, Timothy M. Miller, Heather L. True, Tsui-Fen Chou, Conrad C. Weihl
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 32, Iss , Pp 937-948 (2023)
Dominant missense mutations in DNAJB6, a co-chaperone of HSP70, cause limb girdle muscular dystrophy (LGMD) D1. No treatments are currently available. Two isoforms exist, DNAJB6a and DNAJB6b, each with distinct localizations in muscle. Mutations resi
Externí odkaz:
https://doaj.org/article/98875bfcbb0241d7a450adbfdbc2b0b5
Autor:
Andrew R. Findlay, Sarah E. Robinson, Stephanie Poelker, Michelle Seiffert, Rocio Bengoechea, Conrad C. Weihl
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 2, Pp 181-194 (2023)
ABSTRACT Objective To delineate the full phenotypic spectrum and characterize the natural history of limb girdle muscular dystrophy type D1 (LGMDD1). Methods We extracted age at clinical events of interest contributing to LGMDD1 disease burden via a
Externí odkaz:
https://doaj.org/article/df6f0a45ecd440df9b017670faeb1e15
Autor:
Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
BAG3 is a Hsp70 co-chaperone that is highly expressed in muscles. Here the authors show that several myofibrillar myopathy causing BAG3 mutations are not impaired in Hsp70 binding, but rather impair the ADP-ATP exchange step of the Hsp70 cycle, causi
Externí odkaz:
https://doaj.org/article/ddf05b7beeda41dab42d91cc0f57bb70
Autor:
João Paulo Tavanez, Rocio Bengoechea, Maria T Berciano, Miguel Lafarga, Maria Carmo-Fonseca, Francisco J Enguita
Publikováno v:
PLoS ONE, Vol 4, Iss 7, p e6418 (2009)
Genomic instability at loci with tandem arrays of simple repeats is the cause for many neurological, neurodegenerative and neuromuscular diseases. When located in coding regions, disease-associated expansions of trinucleotide repeats are translated i
Externí odkaz:
https://doaj.org/article/e9596f8e4200445da3e8105d9a03841f