Sympathetic innervation controls homeostasis of neuromuscular junctions in health and disease

Muzamil Majid Khan, Danilo Lustrino, Wilian A. Silveira, +17

Proceedings of the National Academy of Sciences

Muscle FunctionSynaptic TransmissionPeripheral NervePeripheral NervesCellular Physiology +24

Mitochondrial fragmentation enables localized signaling required for cell repair

Adam Horn, Shreya Raavicharla, Sonna Shah, +2

The Journal of Cell Biology

MitophagySignal TransductionMitochondrial FunctionMitochondrial Fragmentation EnablesCell Signaling +12

Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn, +35

The American Journal of Human Genetics

High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia

Zoe White, Chady H. Hakim, Marine Théret, +9

Journal of clinical lipidology

Metabolic SyndromeLipid DisorderPhysiologyGenetic EpidemiologyPathology +5

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

Grace McMacken, Dan Cox, Andreas Roos, +3

Human Molecular Genetics

Synaptic TransmissionNeurotransmitterMusk-deficient ZebrafishNeurotransmissionPeripheral Nerves +26

Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice

Zoe White, Zeren Sun, Elodie Sauge, +6

Skeletal Muscle

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Ana Töpf, Dan Cox, Irina Zaharieva, +82

Nature Genetics

Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy

Benjamin L. Barthel, Dan Cox, Marissa Barbieri, +4

Muscle & Nerve

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

Denisa Hathazi, Dan Cox, Adele D’Amico, +25

Brain

EngineeringGeneticsPathologyDisease Gene IdentificationMendelian Disorder +14

Astroglial <scp>FMRP</scp> modulates synaptic signaling and behavior phenotypes in <scp>FXS</scp> mouse model

Shan‐Xue Jin, Haruki Higashimori, Christina Schin, +7

Glia