Jose A. Araujo-Santamaria

Zülpicher Str. 47
Koeln, NW 50674, Germany

Last Updated: 09/26/2026

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Found 12 publications

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant.

Journal: Molecular genetics and metabolism

Published: August 20, 2024

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.

Journal: The Journal of clinical investigation

Published: April 09, 2024

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.

Journal: Human molecular genetics

Published: March 08, 2021

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.

Journal: Journal of inherited metabolic disease

Published: February 19, 2021

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.

Journal: Human molecular genetics

Published: April 09, 2019

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.

Journal: Journal of inherited metabolic disease

Published: November 09, 2017

S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.

S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency.

Journal: The Journal of clinical investigation

Published: August 05, 2016

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.

Journal: Human genetics

Published: March 22, 2016

Erratum to: Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Erratum to: Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Journal: Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry

Published: December 22, 2015

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.

Journal: Lancet (London, England)

Published: September 08, 2015

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.

Journal: Pediatrics

Published: September 19, 2012

Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Structure and stability of the molybdenum cofactor intermediate cyclic pyranopterin monophosphate.

Journal: Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry

Published: June 05, 2011

Showing 1-12 of 12

Last Updated: 09/26/2026