The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Human Genetics

Volumn 124, Issue 1, 2008, Pages 43-56

  Pedersen, Christina B ^a   Kølvraa, Steen ^b,c   Kølvraa, Agnete ^c   Stenbroen, Vibeke ^a   Kjeldsen, Margrethe ^a   Ensenauer, Regina ^d   Tein, Ingrid ^e   Matern, Dietrich ^f   Rinaldo, Piero ^f   Vianey Saban, Christine ^g   Ribes, Antonia ^h   Lehnert, Willy ⁱ   Christensen, Ernst ^j   Corydon, Thomas J ^c   Andresen, Brage S ^a,c   Vang, Søren ^a   Bolund, Lars ^c   Vockley, Jerry ^k   Bross, Peter ^a   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f Mayo Clinic   (United States)

^g HOSPICES CIVILS DE LYON   (France)

^h Institut de Bioquimica Clinica Barcelona   (Spain)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j Rigshospitalet   (Denmark)

^k CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BUTYRYL COENZYME A DEHYDROGENASE; TETRAMER;

ARTICLE; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FACE DYSMORPHIA; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LETHARGY; MAJOR CLINICAL STUDY; METABOLIC ENCEPHALOPATHY; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FOLDING; SEIZURE; SPEECH DISORDER;

ANIMALS; BUTYRYL-COA DEHYDROGENASE; DIMERIZATION; ENZYME ACTIVATION; GENE FREQUENCY; HUMANS; MALONATES; METABOLISM, INBORN ERRORS; MICE; MICE, INBRED BALB C; MICE, KNOCKOUT; MODELS, MOLECULAR; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN FOLDING; STRUCTURE-ACTIVITY RELATIONSHIP;

MUS; PRIACANTHUS HAMRUR;

EID: 46949109490     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0521-9     Document Type: Article

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