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Paper Details

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ann Neurol
24
2018
-derived fibroblasts, Children, LC3+, TBCK, TBCK p.R126X mutations, TBCK-, TBCK-/-, TBCK-/- fibroblasts, TBCK-encephaloneuronopathy, TBCK-encephalopathy, TBCKE, autophagic-lysosomal dysfunction, boricua, central and peripheral nervous system dysfunction, children, coarse facies, congenital hypotonia, dyslipidemia, epilepsy, fibroblasts, intellectual disability, leucine, leukoencephalopathy, mTORC1, mechanistic target of rapamycin complex 1, neurodegeneration, osteoporosis, p.R126X, patient, patients, progressive motor neuronopathy, rapamycin, sialylated oligosaccharide
Author NameAffiliation
Peter B CrinoUniversity of Maryland School of Medicine
Miao HeThe Perelman School of Medicine, University of Pennsylvania
Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia
Douglas C WallaceThe Perelman School of Medicine, University of Pennsylvania
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