X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2)

Journal of Biological Chemistry

Volumn 287, Issue 34, 2012, Pages 28943-28955

  Bishop, David F ^a   Tchaikovskii, Vassili ^a   Hoffbrand, A Victor ^b   Fraser, Marie E ^c   Margolis, Steven ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b ROYAL FREE HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CALGARY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AFFINITY COLUMN; AMINOLEVULINIC ACID; CARBOXYL-TERMINAL; COOPERATIVITY; ENZYMATIC ACTIVITIES; HEME BIOSYNTHESIS; IN-VITRO; IN-VIVO; MUTANT ENZYMES; MUTANT PROTEINS; RECOMBINANT ENZYMES; SIDEROBLASTIC ANEMIAS; SYNTHASE GENE; SYNTHETASES; VITAMIN B-6; WILD TYPES;

BIOCHEMISTRY; COENZYMES; ENZYME ACTIVITY; GENES; PORPHYRINS;

PROTEINS;

5 AMINOLEVULINATE SYNTHASE; SUCCINYL COENZYME A SYNTHETASE;

ADULT; AMINO ACID SUBSTITUTION; AMINOLEVULINIC ACID SYNTHASE GENE; ARTICLE; BETA CHAIN; BINDING AFFINITY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME REGULATION; ENZYME STABILITY; ERYTHROPOIETIC PROTOPORPHYRIA; GENE DISRUPTION; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; HEME SYNTHESIS; HUMAN; IN VITRO STUDY; MALE; MUTATOR GENE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; X LINKED SIDEROBLASTIC ANEMIA;

5-AMINOLEVULINATE SYNTHETASE; ADULT; AMINO ACID SUBSTITUTION; ANEMIA, SIDEROBLASTIC; ENZYME STABILITY; GENETIC DISEASES, X-LINKED; HEME; HUMANS; MALE; MUTATION, MISSENSE; PROTEIN BINDING; PROTOPORPHYRIA, ERYTHROPOIETIC; SUCCINATE-COA LIGASES; VITAMIN B 6;

EID: 84865213144     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.306423     Document Type: Article

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