List of works - Francisco Martínez-Azorín

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

scientific article

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

scientific article published on 03 May 2019

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

scientific article published on 17 October 2018

A study on the human mitochondrial RNA polymerase activity points to existence of a transcription factor B-like protein.

scientific article published on August 2001

An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene

scientific article

Author's Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome.

scientific article published in January 2017

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

scientific article published on 08 June 2020

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

scientific article

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

scientific article

Cyclopiazonic acid reduces the coupling factor of the Ca2+-ATPase acting on Ca2+ binding.

scientific article published in October 2004

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

scientific article published on 20 June 2014

Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites.

scientific article

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

scientific article published on 7 October 2015

Functional properties of a sarcoplasmic reticulum Ca(2+)-ATPase with an altered Ca(2+)-binding mechanism.

scientific article published on July 1995

Internal translation initiation on the foot-and-mouth disease virus IRES is affected by ribosomal stalk conformation.

scientific article

Limited carbodiimide derivatization modifies some functional properties of the sarcoplasmic reticulum Ca2+ release channel

scientific article published on 01 August 1993

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia

scientific article published on 21 March 2020

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

scientific article

Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster

scientific article

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

scientific article published on 28 March 2019

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

scientific article

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

scientific article published on 28 September 2016

New DNA-binding activity of rat mitochondrial transcription termination factor (mTERF).

scientific article

Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA

scientific article

The P1/P2 proteins of the human ribosomal stalk are required for ribosome binding and depurination by ricin in human cells

scientific article

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

scientific article published on 3 June 2016

The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

scientific article

The mitochondrial ribomotor hypothesis

scientific article published on 01 January 2005

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

scientific article published on 10 October 2013

List of works by Francisco Martínez-Azorín

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24

A study on the human mitochondrial RNA polymerase activity points to existence of a transcription factor B-like protein.

An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene

Author's Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome.

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Corrigendum to "Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene" [Brain Dev. 38 (2016) 167-172].

Cyclopiazonic acid reduces the coupling factor of the Ca2+-ATPase acting on Ca2+ binding.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion

Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

Functional properties of a sarcoplasmic reticulum Ca(2+)-ATPase with an altered Ca(2+)-binding mechanism.

Internal translation initiation on the foot-and-mouth disease virus IRES is affected by ribosomal stalk conformation.

Limited carbodiimide derivatization modifies some functional properties of the sarcoplasmic reticulum Ca2+ release channel

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.

New DNA-binding activity of rat mitochondrial transcription termination factor (mTERF).

Phosphorylation of rat mitochondrial transcription termination factor (mTERF) is required for transcription termination but not for binding to DNA

The P1/P2 proteins of the human ribosomal stalk are required for ribosome binding and depurination by ricin in human cells

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

The mitochondrial ribomotor hypothesis

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome