Francisco Ochoa-Del Cano

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 20 publications

Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.

Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report.

Journal: Frontiers in genetics

Published: February 18, 2026

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: November 25, 2025

Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.

Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.

Journal: Scientific reports

Published: October 21, 2024

Disruption of CAD Oligomerization by Pathogenic Variants.

Disruption of CAD Oligomerization by Pathogenic Variants.

Journal: Journal of molecular biology

Published: September 09, 2024

Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.

Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.

Journal: British journal of haematology

Published: August 28, 2023

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Journal: Journal of inherited metabolic disease

Published: June 15, 2023

A Tailored Strategy to Crosslink the Aspartate Transcarbamoylase Domain of the Multienzymatic Protein CAD.

A Tailored Strategy to Crosslink the Aspartate Transcarbamoylase Domain of the Multienzymatic Protein CAD.

Journal: Molecules (Basel, Switzerland)

Published: November 15, 2022

Phosphorylation of T897 in the dimerization domain of Gemin5 modulates protein interactions and translation regulation.

Phosphorylation of T897 in the dimerization domain of Gemin5 modulates protein interactions and translation regulation.

Journal: Computational and structural biotechnology journal

Published: September 11, 2022

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.

Journal: Human mutation

Published: February 10, 2022

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.

Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.

Journal: Life science alliance

Published: February 10, 2022

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.

Journal: Journal of inherited metabolic disease

Published: August 27, 2021

Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.

Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.

Journal: Protein science : a publication of the Protein Society

Published: July 01, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026