Alan J. Robinson

MRC Mitochondrial Biology Unit

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Edmund R.S. Kunji

MRC Mitochondrial Biology Unit

Anthony C. Smith

MRC Mitochondrial Biology Unit

Filmon Eyassu

MRC Mitochondrial Biology Unit

Massimo Zeviani

IRCCS Materno Infantile Burlo Garofolo

Alvis Brāzma

European Bioinformatics Institute

Jean-Pierre Mazat

Université de Bordeaux

Anthony D. Smith

Science Oxford

Aurelio Reyes

MRC Mitochondrial Biology Unit

Michael P. Murphy

MRC Mitochondrial Biology Unit

Andrew M. James

University of Cambridge

Cooperative Institutions

University of Cambridge

101

MRC Mitochondrial Biology Unit

Medical Research Council

Wellcome Trust

European Bioinformatics Institute

Harvard University

University of Oxford

University of Manchester

Newcastle University

University College London

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NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

Genetics and Molecular Biology (2021)

Vanessa Zanette Daniel Almeida do Valle Bruno Augusto Telles Alan J. Robinson Vaneisse Cristina Lima Monteiro

Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.

Lethargy

Genotype-phenotype distinction

Muscle weakness

10.1590/1678-4685-gmb-2021-0149

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Citations (8)

The Mimivirus Genome Encodes a Mitochondrial Carrier That Transports dATP and dTTP

Journal of Virology (2007)

Magnus Monné Alan J. Robinson Christoph Boes Michael E. Harbour Ian M. Fearnley

ABSTRACT Members of the mitochondrial carrier family have been reported in eukaryotes only, where they transport metabolites and cofactors across the mitochondrial inner membrane to link the metabolic pathways of the cytosol and the matrix. The genome of the giant virus Mimiviridae mimivirus encodes a member of the mitochondrial carrier family of transport proteins. This viral protein has been expressed in Lactococcus lactis and is shown to transport dATP and dTTP. As the 1.2-Mb double-stranded DNA mimivirus genome is rich in A and T residues, we speculate that the virus is using this protein to target the host mitochondria as a source of deoxynucleotides for its replication.

Giant Virus

Mitochondrial carrier

10.1128/jvi.02386-06

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Citations (35)

Additional file 1: of MitoCore: a curated constraint-based model for simulating human central metabolism

Figshare (2017)

Anthony D. Smith Filmon Eyassu Jean-Pierre Mazat Alan J. Robinson

Companion annotation spreadsheet recording evidence and provenance for reactions and parameters used in MitoCore, and reaction fluxes when simulating maximum ATP production using default parameters for cardiomyocytes. (XLSX 289Â kb)

10.6084/m9.figshare.c.3938521_d1

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Links between kinetic data and sequences in the alpha/beta-hydrolases fold database

Briefings in Bioinformatics (2001)

Arnaud Chatonnet Xavier Cousin Alan J. Robinson

While the number of sequenced genes is increasing dramatically, the number of different protein structural families is expected to be more limited. Changes in enzymatic activity or protein interactions can dramatically modify the role of homologous proteins in different organisms or mutants. However, experimental data associated with sequences or mutations stored in databases are often limited to a short description of the enzymatic pathway, molecular interaction or phenotype associated with the changes in amino acid sequence. In the alpha/beta-hydrolases fold database ESTHER, we are experimenting with links between experimental kinetic data and sequences, mutations and protein structures. This effort will lead to the integration of pharmacological data with genome-wide databases.

10.1093/bib/2.1.30

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Citations (9)

Mitochondrial carrier homolog 2 (MTCH2): The recruitment and evolution of a mitochondrial carrier protein to a critical player in apoptosis

Experimental Cell Research (2012)

Alan J. Robinson Edmund R.S. Kunji Atan Gross

Mitochondrial carrier

Mitochondrial apoptosis-induced channel

DNAJA3

Mitochondrial intermembrane space

Bcl-2 Family

Transport protein

10.1016/j.yexcr.2012.01.026

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Citations (44)

MITOCHONDRIAL OXODICARBOXYLATE CARRIER DEFICIENCY: METABOLIC MODELLING IDENTIFIES DISEASE MECHANISM

Boczonadi King King Boglárka Bánsági Andreas Roos Filmon Eyassu

10.17863/cam.26489

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NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms

Figshare (2022)

Vanessa Zanette Daniel Almeida do Valle Bruno Augusto Telles Alan J. Robinson Vaneisse Cristina Lima Monteiro

Abstract Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency in the brazilian population by reporting three patients with pathogenic (c.640G>A, c.1268C>T, c.1207dupG) and likely pathogenic (c.766C>T) variants in the NDUFV1 gene. We show the mutation c.766C>T associated with a childhood onset phenotype of hypotonia, muscle weakness, psychomotor regression, lethargy, dysphagia, and strabismus. Additionally, this mutation was found to be associated with headaches and exercise intolerance in adulthood. We also review reported pathogenic variants in NDUFV1 highlighting the wide phenotypic heterogeneity in CI deficiency.

10.6084/m9.figshare.20018106

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Arabidopsis calcium-binding mitochondrial carrier proteins as potential facilitators of mitochondrial ATP-import and plastid SAM-import

FEBS Letters (2011)

Simon Stael Agostinho G. Rocha Alan J. Robinson Przemyslaw Kmiecik Ute C. Vothknecht

Chloroplasts and mitochondria are central to crucial cellular processes in plants and contribute to a whole range of metabolic pathways. The use of calcium ions as a secondary messenger in and around organelles is increasingly appreciated as an important mediator of plant cell signaling, enabling plants to develop or to acclimatize to changing environmental conditions. Here, we have studied the four calcium-dependent mitochondrial carriers that are encoded in the Arabidopsis genome. An unknown substrate carrier, which was previously found to localize to chloroplasts, is proposed to present a calcium-dependent S-adenosyl methionine carrier. For three predicted ATP/phosphate carriers, we present experimental evidence that they can function as mitochondrial ATP-importers.

Organelle

Calcium Signaling

Adenosine triphosphate

10.1016/j.febslet.2011.10.039

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Citations (55)

Data mining and visualisation of microarray gene expression data

Nature Genetics (1999)

Alan J. Robinson Alvis Brāzma

Microarray databases

Expression (computer science)

10.1038/14392

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Prediction of the three-dimensional structure of human interleukin-7 by homology modeling

Protein Engineering Design and Selection (1996)

Romano T. Kroemer Stephen W. Doughty Alan J. Robinson W. Graham Richards

The three-dimensional structure of human interleukin (IL)-7 has been predicted based on homology to human IL-2, IL-4, granulocyte-macrophage colony stimulating factor and growth hormone. The model has a topology common to other cytokines anddisplays a unique disulfide pattern. Knowledge of the tertiary structure of IL-7 has implications for analysis of key binding regions, suggestions for mutagenesis experiments and design of (ant)agonists. In this context, the model is discussed and compared with other cytokine structures.

Homology

Sequence homology

10.1093/protein/9.6.493

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Citations (51)