Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance

L Liu, D Brown, M McKee, NK LeBrasseur, D Yang… - Cell metabolism, 2008 - cell.com
Caveolae are specialized invaginations of the plasma membrane found in numerous cell
types. They have been implicated as playing a role in a variety of physiological processes …

Evolutionary analysis and molecular dissection of caveola biogenesis

M Kirkham, SJ Nixon, MT Howes… - Journal of cell …, 2008 - journals.biologists.com
Caveolae are an abundant feature of mammalian cells. Integral membrane proteins called
caveolins drive the formation of caveolae but the precise mechanisms underlying caveola …

Caveolin regulates endocytosis of the muscle repair protein, dysferlin

DJ Hernández-Deviez, MT Howes, SH Laval… - Journal of Biological …, 2008 - ASBMB
Dysferlin and Caveolin-3 are plasma membrane proteins associated with muscular
dystrophy. Patients with mutations in the CAV3 gene show dysferlin mislocalization in …

Limb–girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

HP Lo, ST Cooper, FJ Evesson, JT Seto… - Neuromuscular …, 2008 - Elsevier
We characterized the frequency of limb–girdle muscular dystrophy (LGMD) subtypes in a
cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence …

Caveolinopathy–new mutations and additional symptoms

A Aboumousa, J Hoogendijk, R Charlton… - Neuromuscular …, 2008 - Elsevier
Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical
phenotypes. Phenotypes that have so far been associated with primary caveolin-3 …

Caveolin regulates kv1. 5 trafficking to cholesterol-rich membrane microdomains

DP McEwen, Q Li, S Jackson, PM Jenkins… - Molecular …, 2008 - ASPET
The targeting of ion channels to cholesterol-rich membrane microdomains has emerged as
a novel mechanism of ion channel localization. Previously, we reported that Kv1. 5, a …

Expression of the muscular dystrophy-associated caveolin-3P104L mutant in adult mouse skeletal muscle specifically alters the Ca2+ channel function of the …

N Weiss, H Couchoux, C Legrand, C Berthier… - … -European Journal of …, 2008 - Springer
Caveolins are plasma-membrane-associated proteins potentially involved in a variety of
signalling pathways. Different mutations in CAV3, the gene encoding for the muscle-specific …

Freeze‐fracture replica immunolabelling reveals caveolin‐1 in the human cardiomyocyte plasma membrane

H Robenek, G Weissen‐Plenz… - Journal of cellular and …, 2008 - Wiley Online Library
Mutations in or ablation of the gene encoding caveolin‐3, a protein of muscle cell caveolae,
result in forms of muscular dystrophy and cardiomyopathy. Another member of the caveolin …

Strategy for a genetic assessment of antipsychotic and antidepressant-related proarrhythmia

A Drago, F De Ponti, G Boriani… - Current medicinal …, 2008 - ingentaconnect.com
Antidepressants and antipsychotics may affect several ion channels involved in the control
of cardiac action potential and be proarrhythmic. In this field, accurate understanding of …

[PDF][PDF] Etude du complexe CARP-Titine-Calpaïne 3: de la fonction vers la thérapeutique

L Laure - 2008 - biblio.univ-evry.fr
La calpaïne 3, protéase à substrats multiples spécifique du muscle squelettique est
déficiente dans les dystrophies des ceintures de type 2A. Bien que sa (ses) fonction (s) reste …