Publications:

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Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.

Genes

Gilea, Alexandru Ionut AI; Ceccatelli Berti, Camilla C; Magistrati, Martina M; di Punzio, Giulia G; Goffrini, Paola P; Baruffini, Enrico E; Dallabona, Cristina C

Publication Date: 2021-11-24

Variant appearance in text: ANT1: D104G

PubMed Link: 34946817

Variant Present in the following documents:

• Main text

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Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Bmj (Clinical Research Ed.)

Schon, Katherine R KR; Horvath, Rita R; Wei, Wei W; Calabrese, Claudia C; Tucci, Arianna A; Ibañez, Kristina K; Ratnaike, Thiloka T; Pitceathly, Robert D S RDS; Bugiardini, Enrico E; Quinlivan, Rosaline R; Hanna, Michael G MG; Clement, Emma E; Ashton, Emma E; Sayer, John A JA; Brennan, Paul P; Josifova, Dragana D; Izatt, Louise L; Fratter, Carl C; Nesbitt, Victoria V; Barrett, Timothy T; McMullen, Dominic J DJ; Smith, Audrey A; Deshpande, Charulata C; Smithson, Sarah F SF; Festenstein, Richard R; Canham, Natalie N; Caulfield, Mark M; Houlden, Henry H; Rahman, Shamima S; Chinnery, Patrick F PF; ,

Publication Date: 2021-11-03

Variant appearance in text: SLC25A4: 311A>G; Asp104Gly

PubMed Link: 34732400

Variant Present in the following documents:

• Main text
• schk066288.ww2.xlsx, sheet 1

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Learning from Yeast about Mitochondrial Carriers.

Microorganisms

Mentel, Marek M; Chovančíková, Petra P; Zeman, Igor I; Polčic, Peter P

Publication Date: 2021-09-28

Variant appearance in text: ANT1: Asp104Gly

PubMed Link: 34683364

Variant Present in the following documents:

• Main text

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A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations.

International Journal Of Molecular Sciences

di Punzio, Giulia G; Di Noia, Maria Antonietta MA; Delahodde, Agnès A; Sellem, Carole C; Donnini, Claudia C; Palmieri, Luigi L; Lodi, Tiziana T; Dallabona, Cristina C

Publication Date: 2021-04-24

Variant appearance in text: ANT1: D104G

PubMed Link: 33923309

Variant Present in the following documents:

• Main text

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SLC25A4: 311A>G; Asp104Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.

Physiology (Bethesda, Md.)

Kunji, Edmund R S ERS; King, Martin S MS; Ruprecht, Jonathan J JJ; Thangaratnarajah, Chancievan C

Publication Date: 2020-09-01

Variant appearance in text: SLC25A4: Asp104Gly

PubMed Link: 32783608

Variant Present in the following documents:

• Main text
• EMS135878.pdf

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Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Biomolecules

Palmieri, Ferdinando F; Scarcia, Pasquale P; Monné, Magnus M

Publication Date: 2020-04-23

Variant appearance in text: SLC25A4: 311A>G; Asp104Gly

PubMed Link: 32340404

Variant Present in the following documents:

• Main text

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20,000 picometers under the OMM: diving into the vastness of mitochondrial metabolite transport.

Embo Reports

Cunningham, Corey N CN; Rutter, Jared J

Publication Date: 2020-05-06

Variant appearance in text: ANT1: D104G

PubMed Link: 32329174

Variant Present in the following documents:

• Main text

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Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

Nucleic Acids Research

Lehmann, Diana D; Tuppen, Helen A L HAL; Campbell, Georgia E GE; Alston, Charlotte L CL; Lawless, Conor C; Rosa, Hannah S HS; Rocha, Mariana C MC; Reeve, Amy K AK; Nicholls, Thomas J TJ; Deschauer, Marcus M; Zierz, Stephan S; Taylor, Robert W RW; Turnbull, Doug M DM; Vincent, Amy E AE

Publication Date: 2019-08-22

Variant appearance in text: SLC25A4: Asp104Gly

PubMed Link: 31147703

Variant Present in the following documents:

• Main text
• gkz472.pdf

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Phenotypic spectrum of SLC25A4 mutations.

Biomedical Reports

Finsterer, Josef J; Zarrouk-Mahjoub, Sinda S

Publication Date: 2018-08

Variant appearance in text: SLC25A4: 311A>G; D104G

PubMed Link: 30013777

Variant Present in the following documents:

• Main text

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Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder.

Molecular Psychiatry

Kato, Tomoaki M TM; Kubota-Sakashita, Mie M; Fujimori-Tonou, Noriko N; Saitow, Fumihito F; Fuke, Satoshi S; Masuda, Akira A; Itohara, Shigeyoshi S; Suzuki, Hidenori H; Kato, Tadafumi T

Publication Date: 2018-10

Variant appearance in text: SLC25A4: D104G

PubMed Link: 29892051

Variant Present in the following documents:

• 41380_2018_74_MOESM1_ESM.pdf

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MtDNA-maintenance defects: syndromes and genes.

Journal Of Inherited Metabolic Disease

Viscomi, Carlo C; Zeviani, Massimo M

Publication Date: 2017-07

Variant appearance in text: ANT1: D104G

PubMed Link: 28324239

Variant Present in the following documents:

• 10545_2017_Article_27.pdf

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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

American Journal Of Human Genetics

Thompson, Kyle K; Majd, Homa H; Dallabona, Cristina C; Reinson, Karit K; King, Martin S MS; Alston, Charlotte L CL; He, Langping L; Lodi, Tiziana T; Jones, Simon A SA; Fattal-Valevski, Aviva A; Fraenkel, Nitay D ND; Saada, Ann A; Haham, Alon A; Isohanni, Pirjo P; Vara, Roshni R; Barbosa, Inês A IA; Simpson, Michael A MA; Deshpande, Charu C; Puusepp, Sanna S; Bonnen, Penelope E PE; Rodenburg, Richard J RJ; Suomalainen, Anu A; Õunap, Katrin K; Elpeleg, Orly O; Ferrero, Ileana I; McFarland, Robert R; Kunji, Edmund R S ER; Taylor, Robert W RW

Publication Date: 2016-10-06

Variant appearance in text: SLC25A4: D104G

PubMed Link: 27693233

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28999114

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Scientific Reports

Rocha, Mariana C MC; Grady, John P JP; Grünewald, Anne A; Vincent, Amy A; Dobson, Philip F PF; Taylor, Robert W RW; Turnbull, Doug M DM; Rygiel, Karolina A KA

Publication Date: 2015-10-15

Variant appearance in text: SLC25A4: Asp104Gly

PubMed Link: 26469001

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC25A4: D104G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases.

Molecular Biology Of The Cell

Liu, Yaxin Y; Wang, Xiaowen X; Chen, Xin Jie XJ

Publication Date: 2015-06-01

Variant appearance in text: ANT1: D104G

PubMed Link: 25833713

Variant Present in the following documents:

• Main text
• 1985.pdf

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Strauss, Kevin A KA; DuBiner, Lauren L; Simon, Mariella M; Zaragoza, Michael M; Sengupta, Partho P PP; Li, Peng P; Narula, Navneet N; Dreike, Sandra S; Platt, Julia J; Procaccio, Vincent V; Ortiz-González, Xilma R XR; Puffenberger, Erik G EG; Kelley, Richard I RI; Morton, D Holmes DH; Narula, Jagat J; Wallace, Douglas C DC

Publication Date: 2013-02-26

Variant appearance in text: ANT1: D104G

PubMed Link: 23401503

Variant Present in the following documents:

• Main text

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SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia.

Journal Of Clinical Neurology (Seoul, Korea)

Park, Kyung-Pil KP; Kim, Hyang-Sook HS; Kim, Eun-Sook ES; Park, Young-Eun YE; Lee, Chang-Hoon CH; Kim, Dae-Seong DS

Publication Date: 2011-03

Variant appearance in text: SLC25A4: 311A>G

PubMed Link: 21519523

Variant Present in the following documents:

• Main text
• jcn-7-25.pdf

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