Martin Grana

Mataojo 2020, CP 11400 Montevideo
Montevideo, MO 11400, Uruguay

Last Updated: 09/26/2026

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Found 27 publications

The Thiol-Redox Biochemistry of Trypanosomatids: A New Perspective Based on Known and New Actors.

The Thiol-Redox Biochemistry of Trypanosomatids: A New Perspective Based on Known and New Actors.

Journal: Biochemistry

Published: May 28, 2026

Implementation of a medical genomics program for rare diseases in Uruguay.

Implementation of a medical genomics program for rare diseases in Uruguay.

Journal: Orphanet journal of rare diseases

Published: February 26, 2026

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report.

Journal: Frontiers in pediatrics

Published: January 31, 2024

Membrane fusion and fission during eukaryogenesis.

Membrane fusion and fission during eukaryogenesis.

Journal: Current opinion in cell biology

Published: September 05, 2023

Genomic comparison of two strains of Mycobacterium avium subsp. paratuberculosis with contrasting pathogenic phenotype.

Genomic comparison of two strains of Mycobacterium avium subsp. paratuberculosis with contrasting pathogenic phenotype.

Journal: Tuberculosis (Edinburgh, Scotland)

Published: September 30, 2022

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy.

Journal: Human genomics

Published: June 03, 2022

Discovery of archaeal fusexins homologous to eukaryotic HAP2/GCS1 gamete fusion proteins.

Discovery of archaeal fusexins homologous to eukaryotic HAP2/GCS1 gamete fusion proteins.

Journal: Nature communications

Published: May 27, 2022

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.

Journal: BMC pediatrics

Published: January 01, 2022

A Tetratricopeptide Repeat Scaffold Couples Signal Detection to OdhI Phosphorylation in Metabolic Control by the Protein Kinase PknG.

A Tetratricopeptide Repeat Scaffold Couples Signal Detection to OdhI Phosphorylation in Metabolic Control by the Protein Kinase PknG.

Journal: mBio

Published: October 05, 2021

Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.

Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial disease.

Journal: Mitochondrion

Published: May 11, 2021

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.

Journal: Human genomics

Published: March 08, 2021

Recurrent Dissemination of SARS-CoV-2 Through the Uruguayan-Brazilian Border.

Recurrent Dissemination of SARS-CoV-2 Through the Uruguayan-Brazilian Border.

Journal: Frontiers in microbiology

Published: January 15, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026