Results 81 to 90 of about 2,813 (174)

Apolipoprotein E knockout, but not cholesteryl ester transfer protein (CETP)-associated high-density lipoprotein cholesterol (HDL-C) lowering, exacerbates muscle wasting in dysferlin-null mice

Lipids in Health and Disease
Background Dysferlin-deficient limb-girdle muscular dystrophy type 2B (Dysf) mice are notorious for their mild phenotype. Raising plasma total cholesterol (CHOL) via apolipoprotein E (ApoE) knockout (KO) drastically exacerbates muscle wasting in Dysf ...
Zeren Sun, Zoe White, Marine Theret, Pascal Bernatchez   +3 more
doaj   +1 more source

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

, 2011
Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.
Shaw, Pamela J., Greenberg, Cheryl R., Pyle, Ângela, Goebel, Hans H., Pollitt, Christine, Davison, Keith, Beckmann, Jacques S., Keers, Sharon, Bashir, Rumaisa, Pogue, Robert, Vafiadaki, Elizabeth, Moss, Jennifer A., Bertorini, Túlio, Mahjneh, Ibrahim, Anderson, Louise V.B., Argov, Zohar, Wrogemann, Klaus, Harrison, Ruth M., Bushby, Kate M.D.   +18 more
core  

Interactions between nuclear lamins and their binding partners in EDMD fibroblasts [PDF]

, 2003
Lamins are components of the nuclear lamina and are divided In A and B-types, which Interact with proteins of the inner nuclear membrane like emerin.
Alvarez-Reyes, Mauricio
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The role of emerin and LEM domain proteins in nuclear envelope assembly and cytoskeleton organisation [PDF]

, 2005
The nuclear envelope (NE) plays a fundamental role in the cell by separating nuclear from cytoplasmic activities, and mutations in NE proteins have been associated with a diverse array of diseases.
Saipingidou, Georgia, Salpingidou, Georgia   +1 more
core  

MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies.

, 2010
PURPOSE: The continuous discovery of new subtypes of neuromuscular disorders demands more accurate imaging analyses. We set out to establish the specific patterns of muscular involution using magnetic resonance imaging (MRI).
RUBALTELLI, LEOPOLDO, STRAMARE, ROBERTO, FRIGO, ANNA CHIARA, BELTRAME, VALERIA, PEGORARO, ELENA, Gallimberti L, ANGELINI, CORRADO, Feltrin G.P., Dal Borgo R   +8 more
core   +1 more source

Evaluation of the muscle development process in the limb-girdle muscular dystrophy type 2B [PDF]

O músculo esquelético é um tecido abundante no corpo humano e bastante especializado em funções como locomoção, sustentação e reserva energética. A capacidade regenerativa desde tecido após lesões é marcante, e uma extensa e complexa rede de mecanismos ...
Souza, Lucas Santos e
core   +1 more source

Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy

, 2017
The multi-C2 domain protein dysferlin localizes to the plasma membrane and the T-tubule system in skeletal muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy
Büssenschütt, Ronja, Wagner, Stefan, Maier, Lars S., Klinge, Lars, Nikolaev, Viacheslav O., Thoms, Sven, Gärtner, Jutta, Bersch, Kristina, Liebetanz, David, Hofhuis, Julia, Drzymalski, Marzena   +10 more
core   +1 more source

Single Section Western Blot: Improving the Molecular Diagnosis of the Muscular Dystrophies.

, 2003
Single section Western blot (SSWB) is an improved methodology for molecular diagnosis of the muscular dystrophies, requiring only a single 8-[mu]m muscle biopsy cryosection for the simultaneous analysis of multiple disease candidates.
Cooper, Sandra T., North, Kathryn N., Lo, Harriet P.   +2 more
core   +1 more source

Наследственная прогрессирующая конечностно-поясная мышечная дистрофия 2А типа (кальпаинопатия): обзор литературы

, 2015
The Russian literature gives inadequate attention to the problem of one of the most common form of autosomal recessive progressive limb-girdle muscular dystrophies type 2A (LGMD2A) (calpainopathy). This paper highlights current views on the physiological
A. V. Belopasova, D. A. Grishina, Н. А. Супонева, Д. А. Гришина, В. В. Шведков, N. A. Suponeva, V. V. Shvedkov, А. В. Белопасова   +7 more
core   +1 more source

A study of select disparate causes of limb girdle muscular dystrophy - type 2/R

, 2023
Limb-Girdle Muscular Dystrophy (LGMD) refers to a group of maladies that primarily impact the large muscle groups connected to the pectoral and pelvic girdles. LGMD has two major types and over 30 subtypes depending on the specific cause.
Scott, Isaac L.
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