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Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
January 26, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
Kathrin Heuberger, Henry J Bailey, Patricie Burda, et al.
The Journal of Biological Chemistry
|
June 3, 2017
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B<sub>12</sub>-trafficking proteins ABCD4 and LMBD1
Victoria Fettelschoss, Patricie Burda, Corinne Sagné, et al.
Human Mutation
|
March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
Patricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Communications Biology
|
March 12, 2025
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
Matthew C S Denley, Monique S Straub, Giulio Marcionelli, et al.
Human Molecular Genetics
|
July 23, 2015
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
D Sean Froese, Amit Michaeli, Thomas J McCorvie, et al.
Molecular & Cellular Proteomics : MCP
|
July 22, 2014
Progesterone receptor membrane component 1 is a functional part of the glucagon-like peptide-1 (GLP-1) receptor complex in pancreatic β cells
Ming Zhang, Mélanie Robitaille, Aaron D Showalter, et al.
Nature Communications
|
May 11, 2026
Structural insights into cobalamin loading and reactivation of human methionine synthase
Douglas S M Ferreira, Katie McLennan, Calum Diamond, et al.
Biochimie
|
January 21, 2021
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain
Gustavo A Bezerra, Alexander Holenstein, William R Foster, et al.
The Journal of Biological Chemistry
|
August 14, 2016
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
Patrick Forny, Anke Schumann, Merima Mustedanagic, et al.
American Journal of Human Genetics
|
July 2, 2021
Shifting landscapes of human MTHFR missense-variant effects
Jochen Weile, Nishka Kishore, Song Sun, et al.
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of 7
Search research articles
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Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
January 26, 2019
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
Kathrin Heuberger, Henry J Bailey, Patricie Burda, et al.
The Journal of Biological Chemistry
|
June 3, 2017
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B<sub>12</sub>-trafficking proteins ABCD4 and LMBD1
Victoria Fettelschoss, Patricie Burda, Corinne Sagné, et al.
Human Mutation
|
March 5, 2015
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
Patricie Burda, Alexandra Schäfer, Terttu Suormala, et al.
Communications Biology
|
March 12, 2025
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
Matthew C S Denley, Monique S Straub, Giulio Marcionelli, et al.
Human Molecular Genetics
|
July 23, 2015
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design
D Sean Froese, Amit Michaeli, Thomas J McCorvie, et al.
Molecular & Cellular Proteomics : MCP
|
July 22, 2014
Progesterone receptor membrane component 1 is a functional part of the glucagon-like peptide-1 (GLP-1) receptor complex in pancreatic β cells
Ming Zhang, Mélanie Robitaille, Aaron D Showalter, et al.
Nature Communications
|
May 11, 2026
Structural insights into cobalamin loading and reactivation of human methionine synthase
Douglas S M Ferreira, Katie McLennan, Calum Diamond, et al.
Biochimie
|
January 21, 2021
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain
Gustavo A Bezerra, Alexander Holenstein, William R Foster, et al.
The Journal of Biological Chemistry
|
August 14, 2016
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
Patrick Forny, Anke Schumann, Merima Mustedanagic, et al.
American Journal of Human Genetics
|
July 2, 2021
Shifting landscapes of human MTHFR missense-variant effects
Jochen Weile, Nishka Kishore, Song Sun, et al.
Page
of 7