Characterization of a multicomponent receptor for GDNF

James Treanor, Laurie J. Goodman, Frédéric J. de Sauvage, +17

Nature

Multicomponent ReceptorSignal TransductionG Protein-coupled ReceptorMedicineReceptor (Biochemistry) +3

GDNF is an age-specific survival factor for sensory and autonomic neurons

Anna Buj‐Bello, Vladimir L. Buchman, Antony Horton, +2

Neuron

Autonomic NeuronsNeurophysiologyNeuroanatomyMedicinePhysiology +11

Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase

Anna Buj‐Bello, Jimi Adu, Luzia G. P. Piñón, +6

Nature

Signal TransductionSignaling PathwayG Protein-coupled ReceptorMedicineReceptor Tyrosine Kinase +7

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

Lama Al‐Qusairi, Norbert Weiss, Anne Toussaint, +10

Proceedings of the National Academy of Sciences

Muscle FunctionEngineeringCytoskeletonMechanotransductionCellular Physiology +19

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

Martin K. Childers, Romain Joubert, Karine Poulard, +26

Science Translational Medicine

CXorf6 is a causative gene for hypospadias

Maki Fukami, Yuka Wada, Kanako Miyabayashi, +10

Nature Genetics

BiologyDisease MechanismGenetic DisorderGeneticsPathogenesis +5

Genotype–phenotype correlations in X-linked myotubular myopathy

Meriel McEntagart, Gretchen Parsons, Anna Buj‐Bello, +8

Neuromuscular Disorders

Genetic DisorderGeneticsGenotype–phenotype CorrelationsPathologyMedicine

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

Anna Buj‐Bello, Françoise Fougerousse, Yannick Schwab, +12

Human Molecular Genetics

Xlmtm Mouse ModelEngineeringMuscle FunctionImmunologyAav-mediated Intramuscular Delivery +16

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

Valérie Biancalana, Olivier Caron, Sabina Gallati, +7

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyMedicine +3

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Heinz Jungbluth, Haiyan Zhou, Caroline A. Sewry, +7

Neuromuscular Disorders

Muscle FunctionSkeletal MuscleMedicineGeneticsMolecular Biology +3