CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ lon protease

American Journal of Human Genetics

Volumn 96, Issue 1, 2015, Pages 121-135

  Strauss, Kevin A ^a,b,c   Jinks, Robert N ^c   Puffenberger, Erik G ^a,c   Venkatesh, Sundararajan ^d   Singh, Kamalendra ^d,f   Cheng, Iteen ^e   Mikita, Natalie ^e   Thilagavathi, Jayapalraja ^d   Lee, Jae ^d   Sarafianos, Stefan ^f   Benkert, Abigail ^a,c   Koehler, Alanna ^c   Zhu, Anni ^c   Trovillion, Victoria ^c   McGlincy, Madeleine ^c   Morlet, Thierry ^g   Deardorff, Matthew ^h,i   Innes, A Micheil ^j   Prasad, Chitra ^k   Chudley, Albert E ^l   Lee, Irene Nga Wing ^e   Suzuki, Carolyn K ^d   more..

^a Clinic for Special Children   (United States)

^b LANCASTER GENERAL HOSPITAL   (United States)

^c FRANKLIN AND MARSHALL COLLEGE   (United States)

^d RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^e CASE WESTERN RESERVE UNIVERSITY   (United States)

^f University of Missouri   (United States)

^g NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j UNIVERSITY OF CALGARY   (Canada)

^k UNIVERSITY OF WESTERN ONTARIO   (Canada)

^l UNIVERSITY OF MANITOBA   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; ENDOPEPTIDASE LA; MITOCHONDRIAL DNA; ADENOSINE TRIPHOSPHATE DEPENDENT PROTEINASE; LONP1 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; SERINE PROTEINASE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CODAS SYNDROME; DEVELOPMENTAL DISORDER; DNA REPLICATION; EXOME; FEMALE; GENE; GENE EXPRESSION; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INNER MEMBRANE; LONP1 GENE; LYMPHOBLASTOID CELL LINE; MALE; MOLECULAR GENETICS; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN HOMEOSTASIS; PROTEIN LOCALIZATION; PROTEIN QUALITY; STRESS; ANIMAL; CHONDRODYSPLASIA; CONGENITAL HIP DISLOCATION; COPY NUMBER VARIATION; CRANIOFACIAL MALFORMATION; ENZYMOLOGY; EYE MALFORMATION; GENETICS; GROWTH DISORDER; HEK293 CELL LINE; HELA CELL LINE; HOMOZYGOTE; INFANT; METABOLISM; MITOCHONDRION; MOUSE; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; TOOTH MALFORMATION; TRANSMISSION ELECTRON MICROSCOPY; TUMOR CELL LINE;

ADOLESCENT; ANIMALS; ATP-DEPENDENT PROTEASES; CELL LINE, TUMOR; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; DNA, MITOCHONDRIAL; EXOME; EYE ABNORMALITIES; FEMALE; GENE FREQUENCY; GROWTH DISORDERS; HEK293 CELLS; HELA CELLS; HIP DISLOCATION, CONGENITAL; HOMOZYGOTE; HUMANS; INFANT; MALE; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PROTEOLYSIS; SERINE PROTEASES; TOOTH ABNORMALITIES;

EID: 84920722450     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.003     Document Type: Article

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