Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy

Molecular Cell

Volumn 50, Issue 6, 2013, Pages 831-843

  Haddad, Dominik M ^a,b   Vilain, Sven ^a,b   Vos, Melissa ^a,b   Esposito, Giovanni ^a,b   Matta, Samer ^a,b   Kalscheuer, Vera M ^c   Craessaerts, Katleen ^a,b   Leyssen, Maarten ^a,b   Nascimento, Rafaella M P ^d   Vianna Morgante, Angela M ^d   DeStrooper, Bart ^a,b   VanEsch, Hilde ^b   Morais, Vanessa A ^a,b   Verstreken, Patrik ^a,b  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

PARKIN; UBIQUITIN CONJUGATING ENZYME E2;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CASE REPORT; CONTROLLED STUDY; DROSOPHILA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INACTIVATION; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; MITOCHONDRION; MITOPHAGY; MOUSE; MUTATIONAL ANALYSIS; NERVE CELL; NONHUMAN; PEDIGREE ANALYSIS; PROTEIN PROTEIN INTERACTION; SPECIES DIFFERENCE; SYNAPTIC TRANSMISSION; UBE2A GENE; UBIQUITINATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; ANIMALS; CARBONYL CYANIDE M-CHLOROPHENYL HYDRAZONE; CASE-CONTROL STUDIES; CELL LINE; CHILD; DROSOPHILA; DROSOPHILA PROTEINS; EXOME; GENETIC ASSOCIATION STUDIES; HUMANS; KINETICS; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MENTAL RETARDATION, X-LINKED; MICE; MICE, KNOCKOUT; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DEGRADATION; MUTATION, MISSENSE; NEUROMUSCULAR JUNCTION; PEDIGREE; SEQUENCE ANALYSIS, DNA; UBIQUITIN-CONJUGATING ENZYMES; UBIQUITIN-PROTEIN LIGASES; UBIQUITINATION; UNCOUPLING AGENTS;

EID: 84880807019     PISSN: 10972765     EISSN: 10974164     Source Type: Journal    
DOI: 10.1016/j.molcel.2013.04.012     Document Type: Article

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