Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies

(2010) Stefania Assereto et al.   CELL CYCLE

The Binding of Antibiotics to ERp57/GRP58

(2009) Elisa Gaucci et al.   JOURNAL OF ANTIBIOTICS

Long-Term Survival of Transplanted Stem Cells in Immunocompetent Mice with Muscular Dystrophy

(2008) Gregory Q. Wallace et al.   AMERICAN JOURNAL OF PATHOLOGY

Inhibition of Proteasome Activity Promotes the Correct Localization of Disease-Causing α-Sarcoglycan Mutants in HEK-293 Cells Constitutively Expressing β-, γ-, and δ-Sarcoglycan

(2008) Stefano Gastaldello et al.   AMERICAN JOURNAL OF PATHOLOGY

An Ankyrin-Based Mechanism for Functional Organization of Dystrophin and Dystroglycan

(2008) Gai Ayalon et al.   CELL

Syncoilin, an intermediate filament-like protein linked to the dystrophin associated protein complex in skeletal muscle

(2008) C. Moorwood   CELLULAR AND MOLECULAR LIFE SCIENCES

Aggresome Formation and Neurodegenerative Diseases: Therapeutic Implications

(2008) L. Chin et al.   CURRENT MEDICINAL CHEMISTRY

Protein quality control in the early secretory pathway

(2008) Tiziana Anelli et al.   EMBO JOURNAL

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular pathology of myofibrillar myopathies

(2008) Isidre Ferrer et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice

(2008) Kazuhiro Kobuke et al.   HUMAN MOLECULAR GENETICS

Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation

(2008) Marc Bartoli et al.   HUMAN MOLECULAR GENETICS

Getting In and Out from Calnexin/Calreticulin Cycles

(2008) Julio J. Caramelo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inhibition of p97-dependent Protein Degradation by Eeyarestatin I

(2008) Qiuyan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The concept of translocational regulation

(2008) Ramanujan S. Hegde et al.   JOURNAL OF CELL BIOLOGY

Proteasome-Dependent Pharmacological Rescue of Cystic Fibrosis Transmembrane Conductance Regulator Revealed by Mutation of Glycine 622

(2008) C. Norez et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

OS-9 and GRP94 deliver mutant α1-antitrypsin to the Hrd1–SEL1L ubiquitin ligase complex for ERAD

(2008) John C. Christianson et al.   NATURE CELL BIOLOGY

Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?

(2008) Lars Klinge et al.   NEUROMUSCULAR DISORDERS

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

(2008) M. Du et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Recognition and Retrotranslocation of Misfolded Proteins from the Endoplasmic Reticulum

(2008) Kunio Nakatsukasa et al.   TRAFFIC

Technology Insight: therapy for Duchenne muscular dystrophy—an opportunity for personalized medicine?

(2008) Leland E Lim et al.   Nature clinical practice. Neurology

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION

Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C

(2007) Sasha Bogdanovich et al.   MUSCLE & NERVE