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Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome

E Regula Baumgartner
Terttu M Suormala
Markus Vest
Research01 Sept 1989
Pediatric Research

Volume: 26, P: 260-266
Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

The human enzyme MTHFR links the folate and methionine cycles, which are essential for the biosynthesis of nucleotides and proteins. Here, the authors present the crystal structure and biochemical analysis of human MTHFR, providing molecular insights into its function and regulation in higher eukaryotes.

D. Sean Froese
Jolanta Kopec
Wyatt W. Yue
ResearchOpen Access11 Jun 2018
Nature Communications

Volume: 9, P: 1-13
Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

Osamu Sakamoto
Yoichi Suzuki
Kuniaki Narisawa
Research01 Dec 1999
Pediatric Research

Volume: 46, P: 671
Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut⁰, mut⁻, cblA, cblB)

Friederike Hörster
Matthias R Baumgartner
E Regula Baumgartner
Research01 Aug 2007
Pediatric Research

Volume: 62, P: 225-230
Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism

Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B₁₂ metabolism. ABCD4 colocalizes with the lysosomal proteins LAMP1 and LMBD1 and may be involved in intracellular processing of vitamin B₁₂.

David Coelho
Jaeseung C Kim
Matthias R Baumgartner
Research26 Aug 2012
Nature Genetics

Volume: 44, P: 1152-1155
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolism

Frank Rutsch and colleagues show that the cblF inborn error of vitamin B₁₂ metabolism, which is characterized by accumulation of free vitamin B₁₂ in lysosomes, is caused by mutations in the gene encoding the lysosomal membrane protein LMBD1. These findings suggest a critical function for LMBD1 in exporting cobalamin from lysosomes.

Frank Rutsch
Susann Gailus
Peter Nürnberg
Research11 Jan 2009
Nature Genetics

Volume: 41, P: 234-239
Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi

Terttu Suormala
Brian Fowler
Regula Baumgartner
Research01 May 1997
Pediatric Research

Volume: 41, P: 666-673

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Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut⁰, mut⁻, cblA, cblB)

Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolism

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi

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Biotinidase Deficiency: A Cause of Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome). Report of a Case with Lethal Outcome

Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition

Relationship between Kinetic Properties of Mutant Enzyme and Biochemical and Clinical Responsiveness to Biotin in Holocarboxylase Synthetase Deficiency

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy in Vivo and Comparative Biochemical Studies in Vi

Search

Quick links

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut⁰, mut⁻, cblA, cblB)

Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolism