List of works - Michael T Ryan

A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes

scientific article

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

scientific article published on 23 January 2014

A novel isoform of the human mitochondrial complex I subunit NDUFV3.

scientific article published on 17 December 2016

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

scientific article

Analysis of ER-mitochondria contacts using correlative fluorescence microscopy and soft X-ray tomography of mammalian cells

scientific article

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis

scientific article published on 24 February 2007

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

scientific article

Assembly factors of human mitochondrial complex I and their defects in disease

scientific article published on July 2010

Assembly of mitochondrial complex I and defects in disease

scientific article published on 04 May 2008

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

scientific article published on 16 October 2009

BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis.

scientific article published in February 2018

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

scientific article

Biogenesis of yeast mitochondrial cytochrome c: a unique relationship to the TOM machinery

scientific article

Building a complex complex: Assembly of mitochondrial respiratory chain complex I.

scientific article

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

scientific article

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

scientific article

Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations

scientific article

Cooperative and independent roles of the Drp1 adaptors Mff, MiD49 and MiD51 in mitochondrial fission.

scientific article published on 12 April 2016

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

scientific article (publication date: 2004)

Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis

scientific article published on 28 January 2016

Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission

scientific article published in Nature Communications

Essential role of Isd11 in mitochondrial iron-sulfur cluster synthesis on Isu scaffold proteins

scientific article

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

FunRich: An open access standalone functional enrichment and interaction network analysis tool

scientific article

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

scientific article published on 5 December 2012

HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV

scientific article published on 21 April 2020

Identification of new channels by systematic analysis of the mitochondrial outer membrane.

scientific article published on 15 September 2017

Impaired Folding of the Mitochondrial Small TIM Chaperones Induces Clearance by the i-AAA Protease

scientific article published on 02 October 2012

Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor

scientific article

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

scientific article

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

scientific article published in October 2003

Machinery for protein sorting and assembly in the mitochondrial outer membrane

scientific article

Mapping biological composition through quantitative phase and absorption X-ray ptychography

scientific article published on 28 October 2014

Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

scientific article published on 05 June 2020

MiD49 and MiD51, new components of the mitochondrial fission machinery

scientific article

Mitochondria - The energy powerhouses

scientific article published on 05 October 2017

Mitochondria: organization of respiratory chain complexes becomes cristae-lized

scientific article published in November 2013

Mitochondrial OXPHOS complex assembly lines.

scientific article published on 16 April 2018

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome

scientific article

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

scientific article

Mitochondrial fission protein Drp1 inhibition promotes cardiac mesodermal differentiation of human pluripotent stem cells.

scientific article published on 5 March 2018

Mitochondrial fusion: Reaching the end of mitofusin's tether

scientific article

Mitochondrial protein import machineries and lipids: a functional connection

scientific article published on 07 August 2010

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

scientific article

Mitofusins 'bridge' the gap between oxidative stress and mitochondrial hyperfusion

scientific article published on 11 September 2012

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

scientific article

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

scientific article

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

scientific article

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

scientific article

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

scientific article

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

scientific article published on 22 December 2011

Nicotinamide riboside attenuates age-associated metabolic and functional changes in hematopoietic stem cells

scientific article published on 11 May 2021

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training.

scientific article published in March 2017

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

scientific journal article

Publisher Correction: Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

scientific article published on 09 July 2020

Recent advances into the understanding of mitochondrial fission

scientific article

Resolving mitochondrial cristae: introducing a new model into the fold

scientific article published on 22 June 2020

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

scientific article published on 11 July 2017

Splitting up the powerhouse: structural insights into the mechanism of mitochondrial fission

scientific article published on 10 June 2015

Structural and functional analysis of MiD51, a dynamin receptor required for mitochondrial fission

scientific article

Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6

scientific article published on 12 September 2019

The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly

scientific article published on 30 October 2019

The constriction and scission machineries involved in mitochondrial fission

scientific article published on 25 August 2017

The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery

scientific article published on 13 June 2011

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

scientific journal article

Translation and Assembly of Radiolabeled Mitochondrial DNA-Encoded Protein Subunits from Cultured Cells and Isolated Mitochondria

scientific article

Understanding mitochondrial complex I assembly in health and disease

scientific article published on 02 September 2011

VDAC2 enables BAX to mediate apoptosis and limit tumor development

scientific article published in Nature Communications

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

List of works by Michael T Ryan

A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

A novel isoform of the human mitochondrial complex I subunit NDUFV3.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

Analysis of ER-mitochondria contacts using correlative fluorescence microscopy and soft X-ray tomography of mammalian cells

Analysis of mitochondrial subunit assembly into respiratory chain complexes using Blue Native polyacrylamide gel electrophoresis

Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I

Assembly factors of human mitochondrial complex I and their defects in disease

Assembly of mitochondrial complex I and defects in disease

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

BAK/BAX macropores facilitate mitochondrial herniation and mtDNA efflux during apoptosis.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

Biogenesis of yeast mitochondrial cytochrome c: a unique relationship to the TOM machinery

Building a complex complex: Assembly of mitochondrial respiratory chain complex I.

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Characterization of presenilin complexes from mouse and human brain using Blue Native gel electrophoresis reveals high expression in embryonic brain and minimal change in complex mobility with pathogenic presenilin mutations

Cooperative and independent roles of the Drp1 adaptors Mff, MiD49 and MiD51 in mitochondrial fission.

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Deficiency in Apoptosis-Inducing Factor Recapitulates Chronic Kidney Disease via Aberrant Mitochondrial Homeostasis

Dynamin-related protein 1 has membrane constricting and severing abilities sufficient for mitochondrial and peroxisomal fission

Essential role of Isd11 in mitochondrial iron-sulfur cluster synthesis on Isu scaffold proteins

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

FunRich: An open access standalone functional enrichment and interaction network analysis tool

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

HIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV

Identification of new channels by systematic analysis of the mitochondrial outer membrane.

Impaired Folding of the Mitochondrial Small TIM Chaperones Induces Clearance by the i-AAA Protease

Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor

Loss of BIM increases mitochondrial oxygen consumption and lipid oxidation, reduces adiposity and improves insulin sensitivity in mice

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

Machinery for protein sorting and assembly in the mitochondrial outer membrane

Mapping biological composition through quantitative phase and absorption X-ray ptychography

Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

MiD49 and MiD51, new components of the mitochondrial fission machinery

Mitochondria - The energy powerhouses

Mitochondria: organization of respiratory chain complexes becomes cristae-lized

Mitochondrial OXPHOS complex assembly lines.

Mitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome

Mitochondrial dysfunction in a novel form of autosomal recessive ataxia

Mitochondrial fission protein Drp1 inhibition promotes cardiac mesodermal differentiation of human pluripotent stem cells.

Mitochondrial fusion: Reaching the end of mitofusin's tether

Mitochondrial protein import machineries and lipids: a functional connection

Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patients

Mitofusins 'bridge' the gap between oxidative stress and mitochondrial hyperfusion

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

Nicotinamide riboside attenuates age-associated metabolic and functional changes in hematopoietic stem cells

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training.

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

Publisher Correction: Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

Recent advances into the understanding of mitochondrial fission

Resolving mitochondrial cristae: introducing a new model into the fold

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

Splitting up the powerhouse: structural insights into the mechanism of mitochondrial fission

Structural and functional analysis of MiD51, a dynamin receptor required for mitochondrial fission

Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6

The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly

The constriction and scission machineries involved in mitochondrial fission

The regulation of mitochondrial morphology: intricate mechanisms and dynamic machinery

Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy

Translation and Assembly of Radiolabeled Mitochondrial DNA-Encoded Protein Subunits from Cultured Cells and Isolated Mitochondria

Understanding mitochondrial complex I assembly in health and disease

VDAC2 enables BAX to mediate apoptosis and limit tumor development

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect