Reactome | Chuang, JL

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created	[InstanceEdit:9864945] Rothfels, Karen, 2024-03-08
dbId	9864946
displayName	Chuang, JL
firstname	J L
initial	JL
publications	[LiteratureReference:9864949] E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype [LiteratureReference:9864987] Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex [LiteratureReference:9864978] Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients [LiteratureReference:9864947] Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel [LiteratureReference:9864965] Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex [LiteratureReference:9864956] Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease
schemaClass	Person
surname	Chuang

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