Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

Human Mutation

Volumn 38, Issue 10, 2017, Pages 1348-1354

  Nakayama, Tojo ^a,b   Wu, Jiang ^c   Galvin Parton, Patricia ^d   Weiss, Jody ^d   Andriola, Mary R ^d   Hill, R Sean ^a   Vaughan, Dylan J ^a   El Quessny, Malak ^a,h   Barry, Brenda J ^a   Partlow, Jennifer N ^a   Barkovich, A James ^e   Ling, Jiqiang ^c,f   Mochida, Ganeshwaran H ^a,b,g  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^d STONY BROOK UNIVERSITY MEDICAL CENTER   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF TEXAS   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

AARS; aminoacylation defect; hypomyelination; microcephaly; transfer RNA

Indexed keywords

ALANINE TRANSFER RNA LIGASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL ARTICLE; ENZYME ACTIVITY; FEMALE; GENE DUPLICATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INFANT; INTRACTABLE EPILEPSY; LOSS OF FUNCTION MUTATION; LYMPHOBLASTOID CELL LINE; MALE; MICROCEPHALY; MYELINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPASTICITY; SYNDROME; TRNA AMINOACYLATION; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; AMINOACYLATION; COMPLICATION; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAPHY; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; INFANTILE SPASM; LENNOX GASTAUT SYNDROME; MUTATION; PATHOLOGY; PROTEIN SYNTHESIS; SIBLING;

ALANINE-TRNA LIGASE; AMINO ACID SEQUENCE; AMINOACYLATION; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; LENNOX GASTAUT SYNDROME; MICROCEPHALY; MUTATION; PROTEIN BIOSYNTHESIS; SIBLINGS; SPASMS, INFANTILE; SPASTIC PARAPLEGIA, HEREDITARY; WHOLE EXOME SEQUENCING;

EID: 85021253312     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23250     Document Type: Article

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