Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó, +23

Science

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

Leland E. Lim, Franck Duclos, Odile Broux, +7

Nature Genetics

MechanobiologySkeletal MusclePathologyLimb–girdle Muscular DystrophyMedicine +1

Progressive Muscular Dystrophy in α-Sarcoglycan–deficient Mice

Franck Duclos, Volker Straub, Steven A. Moore, +14

The Journal of Cell Biology

Dissection of the Endogenous Cellular Pathways of PCSK9-induced Low Density Lipoprotein Receptor Degradation

Steve Poirier, Gaétan Mayer, Viviane Poupon, +10

Journal of Biological Chemistry

Functional Rescue of the Sarcoglycan Complex in the BIO 14.6 Hamster Using δ-Sarcoglycan Gene Transfer

Kathleen H. Holt, Leland E. Lim, Volker Straub, +5

Molecular Cell

Functional RescueMedicinePathologyGene VectorSarcoglycan Complex +5

Molecular Pathogenesis of Muscle Degeneration in the δ-Sarcoglycan-Deficient Hamster

Volker Straub, Franck Duclos, David Venzke, +4

American Journal Of Pathology

Molecular PhysiologySkeletal MuscleSarcopeniaMedicinePathology +5

Characterization of δ-Sarcoglycan, a Novel Component of the Oligomeric Sarcoglycan Complex Involved in Limb-Girdle Muscular Dystrophy

Daniel Jung, Franck Duclos, Barbara L. Apostol, +11

Journal of Biological Chemistry

Gene in the region of the Friedreich ataxia locus encodes a putative transmembrane protein expressed in the nervous system.

Franck Duclos, Ursula Boschert, Giorgio Sirugo, +3

Proceedings of the National Academy of Sciences

GeneticsGene CharacterizationDisease Gene IdentificationProtein GeneticsSocial Sciences +16

Effects of the Prosegment and pH on the Activity of PCSK9

Suzanne Benjannet, Yascara Grisel Luna Saavedra, Josée Hamelin, +10

Journal of Biological Chemistry

HDL-apoA-I Exchange: Rapid Detection and Association with Atherosclerosis

Mark S. Borja, Lei Zhao, Bradley Hammerson, +10

PLoS ONE

Metabolic SyndromeOxysterolBiochemistryCardiovascular DiseasePhysiology +12