AbstractWe report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a partial mitochondrial presequence, the entire mature peptide and the complete 3′ untranslated region of the E1α mRNA of human branched-chain α-keto acid dehydrogenase complex. Based on this gene structure, exon 9 contains the Tyr393 → Asn mutation previously identified in the E1α subunit of Mennonite and other maple syrup urine disease (MSUD) patients. Moreover, the homozygous mutation appears to cause skipping of exon 6 in the mutant E1α transcript. The information on the gene structure for the entire mature E1α subunit will facilitate investigations into the molecular basis of MSUD involving this subunit
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino aci...
SummaryWe have identified and sequenced a cDNA that encodes an apparent human orthologue of a yeast ...
BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by pho...
AbstractWe report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a...
AbstractWe have isolated a cDNA encoding the E1b-β subunit of the human branched-chain α-keto acid d...
A defect in the E, # subunit of the branched chain a-ketoacid dehydrogenase (BCKDH) complex is one c...
AbstractBackground: Mutations in components of the extraordinarily large α-ketoacid dehydrogenase mu...
Branched chain a-ketoacid dehydrogenase (BCKDH) defi-ciency results in maple syrup urine disease (MS...
We have studied the molecular bases of maple syrup urine dis-ease by analyzing the activity, subunit...
AbstractMaple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defective func...
AbstractAmino acid sequence comparison of 8α and 6β subunits of the α-keto acid dehydrogenase (E1) c...
Background Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficie...
AbstractWe have isolated a human genomic clone hgE2-14 containing exons 5,6,7 and 8 of the branched-...
Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often lea...
2. History of maple syrup urine disease 3. The BCKD complex 4. Molecular genetics of BCK
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino aci...
SummaryWe have identified and sequenced a cDNA that encodes an apparent human orthologue of a yeast ...
BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by pho...
AbstractWe report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a...
AbstractWe have isolated a cDNA encoding the E1b-β subunit of the human branched-chain α-keto acid d...
A defect in the E, # subunit of the branched chain a-ketoacid dehydrogenase (BCKDH) complex is one c...
AbstractBackground: Mutations in components of the extraordinarily large α-ketoacid dehydrogenase mu...
Branched chain a-ketoacid dehydrogenase (BCKDH) defi-ciency results in maple syrup urine disease (MS...
We have studied the molecular bases of maple syrup urine dis-ease by analyzing the activity, subunit...
AbstractMaple syrup urine disease (MSUD) is an autosomal recessive disorder caused by defective func...
AbstractAmino acid sequence comparison of 8α and 6β subunits of the α-keto acid dehydrogenase (E1) c...
Background Maple syrup urine disease (MSUD) is a rare metabolic disorder caused by deficie...
AbstractWe have isolated a human genomic clone hgE2-14 containing exons 5,6,7 and 8 of the branched-...
Untreated maple syrup urine disease (MSUD) results in mental and physical disabilities and often lea...
2. History of maple syrup urine disease 3. The BCKD complex 4. Molecular genetics of BCK
Maple syrup urine disease (MSUD) is a rare, autosomal recessive disorder of branched-chain amino aci...
SummaryWe have identified and sequenced a cDNA that encodes an apparent human orthologue of a yeast ...
BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by pho...