Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 695-703

  Colin, Estelle ^a,b   Daniel, Jens ^c   Ziegler, Alban ^a,b   Wakim, Jamal ^b   Scrivo, Aurora ^d   Haack, Tobias B ^e   Khiati, Salim ^b   Denommé, Anne Sophie ^a,b   Amati Bonneau, Patrizia ^a,b   Charif, Majida ^b   Procaccio, Vincent ^a,b   Reynier, Pascal ^a,b   Aleck, Kyrieckos A ^f   Botto, Lorenzo D ^g   Herper, Claudia Lena ^c   Kaiser, Charlotte Sophia ^c   Nabbout, Rima ^h   N'Guyen, Sylvie ^a   Mora Lorca, José Antonio ⁱ   Assmann, Birgit ^j   Christ, Stine ^j   Meitinger, Thomas ^e,k   Strom, Tim M ^e,k   Prokisch, Holger ^e,k   Génin, Emmanuelle ^f   Campion, Dominique ^f   Dartigues, Jean François ^f   Deleuze, Jean François ^f   Lambert, Jean Charles ^f   Redon, Richard ^f   Ludwig, Thomas ^f   Grenier Boley, Benjamin ^f   Letort, Sébastien ^f   Lindenbaum, Pierre ^f   Meyer, Vincent ^f   Quenez, Olivier ^f   Dina, Christian ^f   Bellenguez, Céline ^f   Le Clézio, Camille Charbonnier ^f   Giemza, Joanna ^f   Chatel, Stéphanie ^f   Férec, Claude ^f   Le Marec, Hervé ^f   Letenneur, Luc ^f   Nicolas, Gaël ^f   Rouault, Karen ^f   Bacq, Delphine ^f   Boland, Anne ^f   Lechner, Doris ^f   Miranda Vizuete, Antonio ⁱ   Hoffmann, Georg F ^j   Lenaers, Guy ^b   Bomont, Pascale ^d   Liebau, Eva ^c   Bonneau, Dominique ^a,b   more..

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ D'ANGERS   (France)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d UNIV MONTPELLIER   (France)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f Phoenix Children's Medical Group ^*

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^j UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^k INSTITUTE OF EPIDEMIOLOGY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

E1 ACTIVATING ENZYME; UBIQUITIN FOLD MODIFIER 1; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; CAENORHABDITIS ELEGANS PROTEIN; PROTEIN; UBA5 PROTEIN, C ELEGANS; UBA5 PROTEIN, HUMAN; UBA5 PROTEIN, ZEBRAFISH; UBIQUITIN; UFM-1 PROTEIN, C ELEGANS; UFM1 PROTEIN, HUMAN; ZEBRAFISH PROTEIN;

ALLELE; ARTICLE; BRAIN DISEASE; CAENORHABDITIS ELEGANS; CHILD; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; FEMALE; FIBROBLAST; GENETIC VARIATION; HUMAN; IN VITRO STUDY; MALE; NEUROMUSCULAR JUNCTION; NEUROTRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SANGER SEQUENCING; SEIZURE; WHOLE EXOME SEQUENCING; ZEBRA FISH; ANIMAL; BRAIN MAPPING; CHOLINERGIC NERVE CELL; DEFICIENCY; EPILEPSY; EXOME; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MICROCEPHALY; MOTOR DYSFUNCTION; MUTATION; ONSET AGE; PATHOLOGY; RECESSIVE GENE; SYNAPTIC TRANSMISSION;

AGE OF ONSET; ALLELES; ANIMALS; BRAIN DISEASES; BRAIN MAPPING; CAENORHABDITIS ELEGANS; CAENORHABDITIS ELEGANS PROTEINS; CHILD; CHILD, PRESCHOOL; CHOLINERGIC NEURONS; ENDOPLASMIC RETICULUM; EPILEPSY; EXOME; FEMALE; FIBROBLASTS; GENES, RECESSIVE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MOVEMENT DISORDERS; MUTATION; PROTEINS; SYNAPTIC TRANSMISSION; UBIQUITIN; UBIQUITIN-ACTIVATING ENZYMES; UBIQUITINS; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84996848287     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.030     Document Type: Article

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