Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Nature Genetics

Volumn 47, Issue 8, 2015, Pages 926-932

  Abrams, Alexander J ^a,b   Hufnagel, Robert B ^c   Rebelo, Adriana ^a   Zanna, Claudia ^d,e   Patel, Neville ^b   Gonzalez, Michael A ^a   Campeanu, Ion J ^b   Griffin, Laurie B ^f   Groenewald, Saskia ^b   Strickland, Alleene V ^a   Tao, Feifei ^a   Speziani, Fiorella ^a   Abreu, Lisa ^a   Schüle, Rebecca ^a,g,h   Caporali, Leonardo ^d   La Morgia, Chiara ^d,e   Maresca, Alessandra ^d,e   Liguori, Rocco ^d,e   Lodi, Raffaele ⁱ   Ahmed, Zubair M ^j   Sund, Kristen L ^c   Wang, Xinjian ^c   Krueger, Laura A ^c   Peng, Yanyan ^c   Prada, Carlos E ^c   Prows, Cynthia A ^c   Schorry, Elizabeth K ^c   Antonellis, Anthony ^k   Zimmerman, Holly H ^l   Abdul Rahman, Omar A ^l   Yang, Yaping ^m   Downes, Susan M ^n,o   Prince, Jeffery ^b   Fontanesi, Flavia ^a   Barrientos, Antonio ^a   Németh, Andrea H ^n,p   Carelli, Valerio ^d,e   Huang, Taosheng ^c   Zuchner, Stephan ^a   Dallman, Julia E ^b   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b Department of Biology   (United States)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f UNIVERSITY OF MICHIGAN   (United States)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^l UNIVERSITY OF MISSISSIPPI   (United States)

^m BAYLOR COLLEGE OF MEDICINE   (United States)

ⁿ UNIVERSITY OF OXFORD   (United Kingdom)

^o OXFORD EYE HOSPITAL   (United Kingdom)

^p UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; LACTIC ACID; MESSENGER RNA; MITOCHONDRIAL PROTEIN; MITOFILIN 1; N ACETYLASPARTIC ACID; OUTER MEMBRANE PROTEIN; UGO1 LIKE PROTEIN; UNCLASSIFIED DRUG; IMMT PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN; PHOSPHATE TRANSPORTER; PROTEIN BINDING; SACCHAROMYCES CEREVISIAE PROTEIN; SLC25A46 PROTEIN, HUMAN; UGO1 PROTEIN, S CEREVISIAE;

ANIMAL CELL; ANIMAL CELL CULTURE; ARTICLE; CHARCOT MARIE TOOTH TYPE 2; CONTROLLED STUDY; COS 7 CELL LINE; EXOME; GENE SILENCING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INNER MEMBRANE; LOSS OF FUNCTION MUTATION; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OPTIC NERVE ATROPHY; PALESTINIAN; PRIORITY JOURNAL; RECESSIVE GENE; SEGREGATION ANALYSIS; UNITED KINGDOM; ZEBRA FISH; ANIMAL; ANIMAL EMBRYO; AUTOSOMAL DOMINANT OPTIC ATROPHY; CHLOROCEBUS AETHIOPS; CONFOCAL MICROSCOPY; COS 1 CELL LINE; DNA SEQUENCE; EMBRYOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; MALE; METABOLISM; MUTATION; PATHOLOGY; PEDIGREE; RNA INTERFERENCE; TRANSGENIC ANIMAL; TRANSMISSION ELECTRON MICROSCOPY; ULTRASTRUCTURE;

DANIO RERIO;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; CERCOPITHECUS AETHIOPS; CHARCOT-MARIE-TOOTH DISEASE; COS CELLS; EMBRYO, NONMAMMALIAN; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; MALE; MEMBRANE PROTEINS; MICROSCOPY, CONFOCAL; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIAL MEMBRANES; MITOCHONDRIAL PROTEINS; MUSCLE PROTEINS; MUTATION; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; PHOSPHATE TRANSPORT PROTEINS; PROTEIN BINDING; RNA INTERFERENCE; SACCHAROMYCES CEREVISIAE PROTEINS; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84938271321     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3354     Document Type: Article

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