Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

Journal of Medical Genetics

Volumn 53, Issue 10, 2016, Pages 690-696

  Mandel, Hanna ^a   Saita, Shotaro ^b   Edvardson, Simon ^c   Jalas, Chaim ^d   Shaag, Avraham ^c   Goldsher, Dorit ^a   Vlodavsky, Euvgeni ^a   Langer, Thomas ^b   Elpeleg, Orly ^c  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b UNIVERSITY OF COLOGNE   (Germany)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d Bonei Olam   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEINASE OMI; MITOCHONDRIAL PROTEIN; SERINE PROTEINASE;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; APOPTOSIS; ARTICLE; BRAIN ATROPHY; BRAIN DEVELOPMENT; CELL GROWTH; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FIBROBLAST; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; HUMAN; INFANT; INTRACTABLE EPILEPSY; LACTIC ACIDEMIA; MALE; MICROCEPHALY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE MITOCHONDRION; NEUTROPENIA; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; ANIMAL; CASE REPORT; DEGENERATIVE DISEASE; DNA MUTATIONAL ANALYSIS; FATALITY; GENETICS; INBORN ERROR OF METABOLISM; METABOLISM; MITOCHONDRION; MOUSE; MUTATION; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; SYNDROME;

ANIMALS; APOPTOSIS; DNA MUTATIONAL ANALYSIS; EXOME; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MICE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; SERINE ENDOPEPTIDASES; SYNDROME;

EID: 84973376095     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103922     Document Type: Article

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