glycogen and Microcephaly

glycogen has been researched along with Microcephaly* in 2 studies

Other Studies

2 other study(ies) available for glycogen and Microcephaly

ArticleYear
C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
    The Journal of clinical investigation, 2021, 06-15, Volume: 131, Issue:12

    BACKGROUNDDeciphering the function of the many genes previously classified as uncharacterized open reading frame (ORF) would complete our understanding of a cell's function and its pathophysiology.METHODSWhole-exome sequencing, yeast 2-hybrid and transcriptome analyses, and molecular characterization were performed in this study to uncover the function of the C2orf69 gene.RESULTSWe identified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. C2orf69 contains an N-terminal signal peptide that is required and sufficient for mitochondrial localization. Consistent with mitochondrial dysfunction, the patients showed signs of respiratory chain defects, and a CRISPR/Cas9-KO cell model of C2orf69 had similar respiratory chain defects. Patient-derived cells revealed alterations in immunological signaling pathways. Deposits of periodic acid-Schiff-positive (PAS-positive) material in tissues from affected individuals, together with decreased glycogen branching enzyme 1 (GBE1) activity, indicated an additional impact of C2orf69 on glycogen metabolism.CONCLUSIONSOur study identifies C2orf69 as an important regulator of human mitochondrial function and suggests that this gene has additional influence on other metabolic pathways.

    Topics: Animals; Cell Line; Glycogen; Glycogen Debranching Enzyme System; Humans; Loss of Function Mutation; Mice; Mice, Knockout; Microcephaly; Mitochondria; Mitochondrial Proteins; Open Reading Frames

2021
Muscular abnormality in xeroderma pigmentosum. High resolution light-microscopy and electron-microscopic observations.
    Journal of the neurological sciences, 1972, Volume: 17, Issue:4

    Topics: Adolescent; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Dwarfism; Female; Glycogen; Humans; Hypogonadism; Infant; Intellectual Disability; Male; Microcephaly; Microscopy, Electron; Mitochondria, Muscle; Muscles; Muscular Diseases; Xeroderma Pigmentosum

1972