Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Chao, Yu-Hsin; Robak, Laurie A; Xia, Fan; Koenig, Mary K; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bellen, Hugo J; Wangler, Michael F

Chao, Yu-Hsin; Robak, Laurie A; Xia, Fan; Koenig, Mary K; Adesina, Adekunle; Bacino, Carlos A; Scaglia, Fernando; Bellen, Hugo J; Wangler, Michael F.

Afiliación

Chao YH; Department of Molecular and Human Genetics.
Robak LA; Department of Molecular and Human Genetics, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA.
Xia F; Department of Molecular and Human Genetics.
Koenig MK; Department of Pediatric Neurology, University of Texas Medical School at Houston, Houston, TX 77030, USA and.
Adesina A; Department of Pathology.
Bacino CA; Department of Molecular and Human Genetics.
Scaglia F; Department of Molecular and Human Genetics.
Bellen HJ; Department of Molecular and Human Genetics, Howard Hughes Medical Institute and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA.
Wangler MF; Department of Molecular and Human Genetics, Neurological Research Institute, Texas Children Hospital, Houston, TX 77030, USA michael.wangler@bcm.edu.

Hum Mol Genet ; 25(9): 1846-56, 2016 05 01.

Article en En | MEDLINE | ID: mdl-26931468

Asunto(s)

Drosophila melanogaster/crecimiento & desarrollo; GTP Fosfohidrolasas/genética; Proteínas Asociadas a Microtúbulos/genética; Mitocondrias/patología; Proteínas Mitocondriales/genética; Mutación Missense/genética; Peroxisomas/patología; Espasmos Infantiles/genética; Secuencia de Aminoácidos; Animales; Proteínas del Citoesqueleto/metabolismo; Drosophila melanogaster/genética; Drosophila melanogaster/metabolismo; Dinaminas; Exoma/genética; Femenino; Proteínas de Unión al GTP/metabolismo; Humanos; Lactante; Recién Nacido; Masculino; Mitocondrias/genética; Mitocondrias/metabolismo; Linaje; Peroxisomas/genética; Peroxisomas/metabolismo; Fenotipo; Dominios Proteicos; Homología de Secuencia de Aminoácido; Espasmos Infantiles/patología

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Espasmos Infantiles / Mutación Missense / Peroxisomas / Proteínas Mitocondriales / Drosophila melanogaster / GTP Fosfohidrolasas / Proteínas Asociadas a Microtúbulos / Mitocondrias Límite: Animals / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2016 Tipo del documento: Article

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google