Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Nature Communications

Volumn 8, Issue 1, 2017, Pages

  Huppke, Peter ^a,b   Weissbach, Susann ^a   Church, Joseph A ^c   Schnur, Rhonda ^d   Krusen, Martina ^e   Dreha Kulaczewski, Steffi ^a   Kühn Velten, W Nikolaus ^f   Wolf, Annika ^a   Huppke, Brenda ^a   Millan, Francisca ^g   Begtrup, Amber ^g   Almusafri, Fatima ^h   Thiele, Holger ⁱ   Altmüller, Janine ^i,j   Nürnberg, Peter ^i,k   Müller, Michael ^a,b   Gärtner, Jutta ^a  

^a UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^b Center for Nanoscale Microscopy and Molecular Physiology of the Brain (CNMPB)   (Germany)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d Department of Surgery   (United States)

^e Lebenszentrum Konigsborn Fachklinik F Kinderneurologie   (Germany)

^f Medizinisches Labor Bremen   (Germany)

^g GENEDX   (United States)

^h HAMAD MEDICAL CORPORATION   (Qatar)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^k UNIVERSITY OF COLOGNE   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; AKR1B10 PROTEIN; AKR1C1 PROTEIN; ASCORBIC ACID; ATP BINDING CASSETTE SUBFAMILY C MEMBER 1; CREATINE; ENZYME; G 6 P DEHYDROGENASE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTAMATE CYSTEINE LIGASE; GLUTATHIONE; GLUTATHIONE REDUCTASE; HEME OXYGENASE 1; KELCH LIKE ECH ASSOCIATED PROTEIN 1; LUTEOLIN; MALIC ENZYME 1; N ACETYLASPARTYLGLUTAMIC ACID; NFE2L2 PROTEIN; OXIDOREDUCTASE; PEROXIREDOXIN 1; PROTEIN; THIOREDOXIN; THIOREDOXIN REDUCTASE 1; TRANSCRIPTION FACTOR NRF2; UNCLASSIFIED DRUG; KEAP1 PROTEIN, HUMAN; NFE2L2 PROTEIN, HUMAN;

CANCER; CELLS AND CELL COMPONENTS; DRUG RESISTANCE; ENZYME; ENZYME ACTIVITY; GENE EXPRESSION; MUTATION; SURVIVAL;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DE NOVO MUTATION; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOHOMOCYSTEINAEMIA; IMMUNE DEFICIENCY; IN VITRO STUDY; IN VIVO STUDY; MALE; NEUROLOGIC DISEASE; OXIDATION REDUCTION POTENTIAL; PRESCHOOL CHILD; PROTON NUCLEAR MAGNETIC RESONANCE; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; WESTERN BLOTTING; WHITE MATTER LESION; WHOLE EXOME SEQUENCING; BINDING SITE; BRAIN; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; GENE EXPRESSION REGULATION; GENETICS; INFANT; LEARNING DISORDER; METABOLISM; MISSENSE MUTATION; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; SYNDROME;

MAMMALIA;

ADOLESCENT; BINDING SITES; BRAIN; CHILD; DEVELOPMENTAL DISABILITIES; FAILURE TO THRIVE; FEMALE; GENE EXPRESSION REGULATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; KELCH-LIKE ECH-ASSOCIATED PROTEIN 1; LEARNING DISORDERS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; NF-E2-RELATED FACTOR 2; SYNDROME;

EID: 85030982281     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/s41467-017-00932-7     Document Type: Article

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