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Results: 2
Cover Image for Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL. View Article
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Neil V Morgan, Bryndis Yngvadottir, Mary O'Driscoll, Graeme R Clark, Diana Walsh, Ezequiel Martin, Louise Tee, Evan Reid, Hannah L Titheradge, Eamonn R Maher
Nov 27, 2020
autosomal recessive cerebral palsy Inherited
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Cover Image for Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1. View Article
Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU1.
Valentina Debattisti, Adam Horn, Raghavendra Singh, Erin L Seifert, Marshall W Hogarth, Davi A Mazala, Kai Ting Huang, Rita Horvath, Jyoti K Jaiswal, György Hajnóczky
Apr 21, 2020
Muscle function is regulated by Ca2+, which mediates excitation-contraction coupling, energy metabolism, adaptation to exercise, and sarcolemmal repair. Several of these actions rely on Ca2+ delivery to the mitochondrial matrix...
Atrophy autosomal recessive Calcium Injury membrane Mitochondria mitochondrial disease muscle disease Adolescent Adult Animals Calcium Calcium Signaling Calcium-Binding Proteins Cation Transport Proteins Cell Membrane Cytosol Female FIBROBLASTS Homeostasis Humans Male Mice Knockout Mitochondria Mitochondrial Membrane Transport Proteins Models Biological Muscle Contraction Muscle Weakness Muscle Skeletal Muscular Atrophy Sarcolemma Tetanus Wasting Syndrome
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