Marjolein Bosma

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

Fecal gut microbiota and amino acids as noninvasive diagnostic biomarkers of Pediatric inflammatory bowel disease.

Fecal gut microbiota and amino acids as noninvasive diagnostic biomarkers of Pediatric inflammatory bowel disease.

Journal: Gut microbes
Published: June 12, 2025

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Journal: International journal of molecular sciences
Published: March 03, 2025

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 13, 2025

S-adenosylmethionine addiction confers sensitivity to methionine restriction in KMT2A-rearranged acute lymphoblastic leukemia.

S-adenosylmethionine addiction confers sensitivity to methionine restriction in KMT2A-rearranged acute lymphoblastic leukemia.

Journal: Haematologica
Published: December 15, 2023

mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.

mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.

Journal: Molecular cell
Published: October 19, 2023

Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.

Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein.

Journal: The Journal of biological chemistry
Published: January 30, 2023

The malate-aspartate shuttle is important for de novo serine biosynthesis.

The malate-aspartate shuttle is important for de novo serine biosynthesis.

Journal: Cell reports
Published: November 21, 2022

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.

A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.

Journal: Human molecular genetics
Published: April 23, 2020

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: July 23, 2019

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

Journal: PloS one
Published: July 08, 2019

Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Journal: Human molecular genetics
Published: March 11, 2019

Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Journal: Human molecular genetics
Published: March 11, 2019
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Last Updated: 09/26/2026