Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2γ recapitulate the mitochondriopathy of the homologous null mouse

Human Mutation

Volumn 36, Issue 3, 2015, Pages 301-306

  Saunders, Carol J ^a   Moon, Sung Ho ^b   Liu, Xinping ^b   Thiffault, Isabelle ^a   Coffman, Keith ^a   Lepichon, Jean Baptiste ^a   Taboada, Eugenio ^a   Smith, Laurie D ^a   Farrow, Emily G ^a   Miller, Neil ^a   Gibson, Margaret ^a   Patterson, Melanie ^a   Kingsmore, Stephen F ^a   Gross, Richard W ^b  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Dystonia; Mitochondrial dysfunction; Phospholipase; PNPLA8

Indexed keywords

AMINO ACID; CALCIUM INDEPENDENT PHOSPHOLIPASE A2; CALCIUM INDEPENDENT PHOSPHOLIPASE A2 GAMMA; GLYCEROPHOSPHOLIPID; LIPID; UNCLASSIFIED DRUG; CALCIUM; ISOPROTEIN; PHOSPHOLIPASE A2 GROUP IV;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CELL GROWTH; CELL METABOLISM; CELL STRUCTURE; CHILD; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE; HISTOLOGY; HUMAN; INFANT; LACTIC ACIDOSIS; LIPIDOSIS; MITOCHONDRIAL MYOPATHY; MOUSE; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEUROAXONAL DYSTROPHY; NONHUMAN; PNPLA 8 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SECOND MESSENGER; SEIZURE; SEQUENCE ANALYSIS; WEIGHT GAIN; ANIMAL; GENETICS; KNOCKOUT MOUSE; METABOLISM; MITOCHONDRION; PATHOLOGY;

MUS;

ANIMALS; CALCIUM; CHILD; FEMALE; GROUP IV PHOSPHOLIPASES A2; HUMANS; MICE; MICE, KNOCKOUT; MITOCHONDRIA; PROTEIN ISOFORMS;

EID: 84924576154     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22743     Document Type: Article

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