نتایج جستجو برای: myofibrillar myopathy

تعداد نتایج: 14255  

Journal: :Genes & development 2005
Xiaoxia Wang Chris Blagden Jihua Fan Scott J Nowak Ichiro Taniuchi Dan R Littman Steven J Burden

Disruptions in the use of skeletal muscle lead to muscle atrophy. After short periods of disuse, muscle atrophy is reversible, and even after prolonged periods of inactivity, myofiber degeneration is uncommon. The pathways that regulate atrophy, initiated either by peripheral nerve damage, immobilization, aging, catabolic steroids, or cancer cachexia, however, are poorly understood. Previously,...

2010
Coen A. C. Ottenheijm Henk Granzier

One important feature of muscle structure and function that has remained relatively obscure is the mechanism that regulates thin filament length. Filament length is an important aspect of muscle function as force production is proportional to the amount of overlap between thick and thin filaments. Recent advances, due in part to the generation of nebulin KO models, reveal that nebulin plays an ...

2015
Inga Wójtowicz Jadwiga Jabłońska Monika Zmojdzian Ouarda Taghli-Lamallem Yoan Renaud Malgorzata Daczewska Sven Huelsmann Krzysztof Jagla

Molecular chaperones, suchas the small heat shockproteins (sHsps), maintain normal cellular function by controlling protein homeostasis in stress conditions. However, sHsps are not only activated in response to environmental insults, but also exert developmental and tissuespecific functions that aremuch less known.Here,weshow that during normal development the Drosophila sHsp CryAB [L(2)efl] is...

Journal: :Brain : a journal of neurology 2007
M C Walter P Reilich A Huebner D Fischer R Schröder M Vorgerd W Kress C Born B G Schoser K H Krause U Klutzny S Bulst J R Frey H Lochmüller

In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named 'scapuloperoneal syndrome type Kaeser' (OMIM #181400). By genetic analysis of the original kindred, we discovered a heterozygous missense mutation of the desmin gene (R350P) cosegregating with the disorder. Moreove...

2014
Kyung-Jin Min Yung-Taek Ouh Hye-Ri Hong Kyeong-A So Jin Hwa Hong Jae-Kwan Lee

INTRODUCTION Epithelial ovarian cancer (EOC) has one of the worst prognoses among gynecologic cancers. An appropriate screening method is not available for EOC, and the initial symptoms such as abdominal pain or bloating, anorexia, and urinary urgency are vague. As a result, most cases of EOC are diagnosed at an advanced stage. CASE PRESENTATION We report novel insights gained from the case o...

2018
Orlando J Castejón

Vuia1 reported two twin brothers diagnosed with congenital spongy degeneration of the brain featured by accumulation of lamellar bodies within the mitochondria, and free in the cellular cytoplasm with tendency to form inclusions of the multilamellar or finger-print type. Watanabe2 described in a 51/2-year-old boy with congenital myopathy associated with communicating hydrocephalus myofibrillar ...

Journal: :Biochemical pharmacology 2011
Giulia Maria Camerino Maria Antonietta Pellegrino Lorenza Brocca Claudio Digennaro Diana Conte Camerino Sabata Pierno Roberto Bottinelli

Statins and fibrates can cause myopathy. To further understand the causes of the damage we performed a proteome analysis in fast-twitch skeletal muscle of rats chronically treated with different hypolipidemic drugs. The proteomic maps were obtained from extensor digitorum longus (EDL) muscles of rats treated for 2-months with 10mg/kg atorvastatin, 20 mg/kg fluvastatin, 60 mg/kg fenofibrate and ...

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