Zobrazeno 1 - 3 of 3 pro vyhledávání: '"Johanna Ranta‐aho"'
1
Akademický článek
Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Autor: Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 9, Pp 2392-2405 (2024)
Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the
Externí odkaz: https://doaj.org/article/1f318ed717064dd8b12f3cd0a39c5abf
Zobrazit plný text záznamu
2
Mutation update for the ACTN2 gene
Autor: Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Publikováno v: HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
ACTN2 encodes alpha-actinin-2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z-disk, functions as a link between the anti-parallel actin filaments. This important structural protein also binds N-termi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6877b8a092dbbf8bb293a5d3c2aa909f
https://pubmed.ncbi.nlm.nih.gov/36116040
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje