Works matching Mitochondrial DNA depletion syndromes

Results: 160

A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12223, doi. 10.3390/ijms222212223

By:

di Punzio, Giulia;
Gilberti, Micol;
Baruffini, Enrico;
Lodi, Tiziana;
Donnini, Claudia;
Dallabona, Cristina

Publication type:

Article

A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells.

Published in:

BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1939-0

By:

Weiher, Hans;
Pircher, Haymo;
Jansen-Durr, Pidder;
Hegenbarth, Silke;
Knolle, Percy;
Grunau, Silke;
Vapola, Miia;
Hiltunen, J. Kalervo;
Zwacka, Ralf M.;
Schmelzer, Elmon;
Reumann, Kerstin;
Will, Hans

Publication type:

Article

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0893-9

By:

Mahjoub, Ghazale;
Habibzadeh, Parham;
Dastsooz, Hassan;
Mirzaei, Malihe;
Kavosi, Arghavan;
Jamali, Laila;
Javanmardi, Haniyeh;
Katibeh, Pegah;
Faghihi, Mohammad Ali;
Dastgheib, Seyed Alireza

Publication type:

Article

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.

Published in:

Molecular Syndromology, 2024, v. 15, n. 6, p. 450, doi. 10.1159/000539034

By:

Doğulu, Neslihan;
Köse, Engin;
Ceylaner, Serdar;
Kasapkara, Çiğdem Seher;
Bozaci, Ayşe Ergul;
Oncul, Ummuhan;
Eminoğlu, Fatma Tuba

Publication type:

Article

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Published in:

2015

By:

Yu-Ri Choi;
Young Bin Hong;
Sung-Chul Jung;
Ja Hyun Lee;
Ye Jin Kim;
Hyung Jun Park;
Jinho Lee;
Heasoo Koo;
Ji-Su Lee;
Dong Hwan Jwa;
Namhee Jung;
So-Youn Woo;
Sang-Beom Kim;
Ki Wha Chung;
Byung-Ok Choi;
Choi, Yu-Ri;
Hong, Young Bin;
Jung, Sung-Chul;
Lee, Ja Hyun;
Kim, Ye Jin

Publication type:

journal article

Syndromes associated with mitochondrial DNA depletion.

Published in:

Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/1824-7288-40-34

By:

Nogueira, Célia;
Almeida, Ligia S.;
Nesti, Claudia;
Pezzini, Ilaria;
Videira, Arnaldo;
Vilarinho, Laura;
Santorelli, Filippo M.

Publication type:

Article

MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.

Published in:

Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462

By:

Baumann, Matthias;
Karall, Daniela;
Schreiber, Herbert;
Schlotter‐Weigel, Beate;
Stucka, Rolf;
Senderek, Jan;
Löscher, Wolfgang N.;
Strom, Tim M.;
Bauer, Peter;
Krabichler, Birgit;
Fauth, Christine;
Glaeser, Dieter

Publication type:

Article

Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes.

Published in:

Journal of Biosciences, 2024, v. 49, n. 1, p. 1, doi. 10.1007/s12038-024-00428-9

By:

Sen, Ritoprova;
Jetto, Cuckoo Teresa;
Manjithaya, Ravi

Publication type:

Article

DGUOK 相关线粒体DNA 耗竭综合征 1 例报道及文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 3, p. 274, doi. 10.7499/j.issn.1008-8830.2020.03.017

By:

林桂枝;
邱建武;
邓梅;
林伟霞;
郭丽;
宋元宗

Publication type:

Article

DGUOK 相关线粒体DNA 耗竭综合征 1 例报道及文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 2, p. 274, doi. 10.7499/j.issn.1008-8830.2020.03.017

By:

林桂枝;
邱建武;
邓梅;
林伟霞;
郭丽;
宋元宗

Publication type:

Article

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1265115

By:

Almudhry, Montaha;
Saini, Arushi Gahlot;
Al-Omari, Mohammed A.;
Sharma, Yashu;
Nouri, Maryam Nabavi;
Rupar, C. Anthony;
Prasad, Chitra;
Yu, Andrea C.;
Attri, Savita Verma;
Prasad, Asuri Narayan

Publication type:

Article

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1427

By:

Kishita, Yoshihito;
Shimura, Masaru;
Kohda, Masakazu;
Akita, Masumi;
Imai‐Okazaki, Atsuko;
Yatsuka, Yukiko;
Nakajima, Yoko;
Ito, Tetsuya;
Ohtake, Akira;
Murayama, Kei;
Okazaki, Yasushi

Publication type:

Article

Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome.

Published in:

Pediatrics International, 2014, v. 56, n. 2, p. 180, doi. 10.1111/ped.12249

By:

Yamazaki, Taro;
Murayama, Kei;
Compton, Alison G;
Sugiana, Canny;
Harashima, Hiroko;
Amemiya, Shin;
Ajima, Masami;
Tsuruoka, Tomoko;
Fujinami, Ayako;
Kawachi, Emi;
Kurashige, Yoshiko;
Matsushita, Kenshi;
Wakiguchi, Hiroshi;
Mori, Masato;
Iwasa, Hiroyasu;
Okazaki, Yasushi;
Thorburn, David R;
Ohtake, Akira

Publication type:

Article

Rare health conditions 62: acute flaccid myelitis, infantile onset encephalomyopathy mitochondrial DNA depletion syndrome and chronic granulomatous disease.

Published in:

British Journal of Healthcare Assistants, 2022, v. 16, n. 9, p. 422, doi. 10.12968/bjha.2022.16.9.422

By:

Barber, Chris

Publication type:

Article

Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.

Published in:

Clinical Genetics, 2018, v. 93, n. 5, p. 1093, doi. 10.1111/cge.13208

By:

Meldau, S.;
Marais, A. D.;
Van der Watt, G. F.;
De Lacy, R. J.;
Goddard, E. A.;
Riordan, G. T. M.;
Pillay, K.;
Fieggen, K. J.

Publication type:

Article

Mitochondrial deoxyguanosine kinase mutations and mitochondrial DNA depletion syndrome

Published in:

FEBS Letters, 2003, v. 554, n. 3, p. 319, doi. 10.1016/S0014-5793(03)01181-5

By:

Wang, Liya;
Eriksson, Staffan

Publication type:

Article

Mitochondrial DNA depletion syndrome causing liver failure.

Published in:

Indian Pediatrics, 2014, v. 51, n. 8, p. 666, doi. 10.1007/s13312-014-0475-z

By:

Bijarnia-Mahay, Sunita;
Mohan, Neelam;
Goyal, Deepak;
Verma, I.;
Elizabeth, K.;
Jubin, K.

Publication type:

Article

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1268135

By:

Guzman, Herodes;
Yazdani, Sahr;
Harmon, Jennifer L.;
Chapman, Kimberly A.;
Vitola, Bernadette;
Pyle, Louise;
McKnight, Heather;
Sigal, Winnie;
Lord, Katherine;
De Leon, Diva D.;
Merchant, Nadia;
Ganetzky, Rebecca

Publication type:

Article

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.

Published in:

2023

By:

Abduljalil, Razan;
Ben Turkia, Hadhami;
Fakhroo, Aysha;
Skrypnyk, Cristina

Publication type:

Case Study

Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1394150

By:

Xiaohuan Zhang;
Guo Zhang;
Li Cao;
Wenjing Zhou;
Chang Tan;
Shi Ma;
Jiyun Yang

Publication type:

Article

FBXL4 -Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Published in:

Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00039

By:

Ballout, Rami A.;
Al Alam, Chadi;
Bonnen, Penelope E.;
Huemer, Martina;
El-Hattab, Ayman W.;
Shbarou, Rolla

Publication type:

Article

Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report.

Published in:

2012

By:

Selim, Laila;
Mehaney, Dina;
Hassan, Fayza;
Sabry, Randa;
Zeyada, Reham;
Hassan, Sawsan;
Eldin, Iman Gamal;
Bertini, Enrico

Publication type:

Case Study

Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03639-x

By:

Li, Duoling;
Shi, Yixin;
Sun, Hanhan;
Yan, Chuanzhu;
Lin, Yan

Publication type:

Article

Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome.

Published in:

Pediatric & Developmental Pathology, 2013, v. 16, n. 6, p. 415, doi. 10.2350/12-07-1229-OA.1

By:

HAZARD, FLORETTE K.;
FICICIOGLU, CAN H.;
GANESH, JAYA;
RUCHELLI, EDUARDO D.

Publication type:

Article

Conjugated Hyperbilirubinemia in Infancy (Mitochondrial DNA Depletion Syndrome, Liver).

Published in:

Pediatric & Developmental Pathology, 2004, v. 7, n. 6, p. 625, doi. 10.1007/s10024-004-5052-3

By:

Dimmick, James

Publication type:

Article

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report.

Published in:

Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.664278

By:

Franklin, Andrew D.;
Chaudhari, Bimal P.;
Koboldt, Daniel C.;
Machut, Kerri Z.

Publication type:

Article

Adult mitochondrial DNA depletion syndrome with mild manifestations.

Published in:

2013

By:

Finsterer, Josef;
Kovacs, Gabor G.;
Ahting, Uwe

Publication type:

Case Study

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 G.

Published in:

2012

By:

AlSaman, Abdulaziz;
Tomoum, Hoda;
Invernizzi, Federica;
Zeviani, Massimo

Publication type:

Case Study

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0875-y

By:

Li, Xianghong;
Li, Liangshan;
Sun, Yaqi;
Lv, Fuyan;
Zhang, Guoqing;
Liu, Wenmiao;
Zhang, Meiyan;
Jiang, Hong;
Liu, Shiguo

Publication type:

Article

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13.

Published in:

Global Medical Genetics, 2023, v. 10, n. 4, p. 278, doi. 10.1055/s-0043-1775979

By:

Alotaibi, Maha;
Alqasmi, Amal;
Albassam, Faisal;
Alkahtani, Turki;
Alqahtany, Muath;
Alkhaldi, Mohammed

Publication type:

Article

Mitochondrial DNA Depletion Syndrome-An Unusual Reason for Interstage Attrition after the Modified Stage 1 Norwood Operation.

Published in:

Congenital Heart Disease, 2013, v. 8, n. 1, p. E20, doi. 10.1111/j.1747-0803.2011.00569.x

By:

Cave, Dominic;
Ross, David B.;
Bahitham, Wesam;
Chan, Alicia;
Sergi, Consolato;
Adatia, Ian

Publication type:

Article

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant.

Published in:

Molecular Syndromology, 2021, v. 12, n. 5, p. 294, doi. 10.1159/000515928

By:

Oncul, Ummuhan;
Kose, Engin;
Eminoglu, Fatma Tuba

Publication type:

Article

The United Kingdom Sets Limits on Experimental Treatments: The Case of Charlie Gard.

Published in:

2017

By:

Truog, Robert D.

Publication type:

journal article

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 184, doi. 10.1038/ejhg.2013.112

By:

Uusimaa, Johanna;
Evans, Julie;
Smith, Conrad;
Butterworth, Anna;
Craig, Kate;
Ashley, Neil;
Liao, Chunyan;
Carver, Janet;
Diot, Alan;
Macleod, Lorna;
Hargreaves, Iain;
Al-Hussaini, Abdulrahman;
Faqeih, Eissa;
Asery, Ali;
Al Balwi, Mohammed;
Eyaid, Wafaa;
Al-Sunaid, Areej;
Kelly, Deirdre;
van Mourik, Indra;
Ball, Sarah

Publication type:

Article

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 12, p. 834, doi. 10.1038/jhg.2011.112

By:

Douglas, Ganka V;
Wiszniewska, Joanna;
Lipson, Mark H;
Witt, David R;
McDowell, Taryn;
Sifry-Platt, Mara;
Hirano, Michio;
Craigen, William J;
Wong, Lee-Jun C

Publication type:

Article

Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Published in:: Brain: A Journal of Neurology, 2021, v. 144, n. 11, p. e88, doi. 10.1093/brain/awab324
Publication type:: Article

The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.

Published in:

Biological Chemistry, 2015, v. 396, n. 1, p. 13, doi. 10.1515/hsz-2014-0198

By:

Löllgen, Stefanie;
Weiher, Hans

Publication type:

Article

Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-47284-5

By:

Su, Leila;
Wang, Xin;
Wang, Jianghai;
Luh, Frank;
Yen, Yun

Publication type:

Article

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 9, p. 2459

By:

Cámara, Yolanda;
González-Vioque, Emiliano;
Scarpelli, Mauro;
Torres-Torronteras, Javier;
Caballero, Andrea;
Hirano, Michio;
Martí, Ramon

Publication type:

Article

Global Genetic Determinants of Mitochondrial DNA Copy Number.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105242

By:

Zhang, Hengshan;
Singh, Keshav K.

Publication type:

Article

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.

Published in:

2020

By:

Shimura, Masaru;
Kuranobu, Naomi;
Ogawa-Tominaga, Minako;
Akiyama, Nana;
Sugiyama, Yohei;
Ebihara, Tomohiro;
Fushimi, Takuya;
Ichimoto, Keiko;
Matsunaga, Ayako;
Tsuruoka, Tomoko;
Kishita, Yoshihito;
Umetsu, Shuichiro;
Inui, Ayano;
Fujisawa, Tomoo;
Tanikawa, Ken;
Ito, Reiko;
Fukuda, Akinari;
Murakami, Jun;
Kaji, Shunsaku;
Kasahara, Mureo

Publication type:

journal article

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.

Published in:

Journal of Molecular Medicine, 2002, v. 80, n. 7, p. 389, doi. 10.1007/s00109-002-0343-5

By:

Elpeleg, Orly;
Mandel, Hanna;
Saada, Ann

Publication type:

Article

Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 1, p. 124, doi. 10.1177/0883073813517000

By:

Sezer, Taner;
Ozçay, Figen;
Balci, Oya;
Alehan, Füsun

Publication type:

Article

Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome.

Published in:

Autophagy, 2024, v. 20, n. 2, p. 460, doi. 10.1080/15548627.2023.2274260

By:

Gao, Kun;
Chen, Yingji;
Mo, Ren;
Wang, Chenji

Publication type:

Article

When best interests are not good enough.

Published in:

2017

By:

Gold, Hugo

Publication type:

journal article

Charlie Gard case raises questions about ethical treatment versus experimental medicine.

Published in:

2017

By:

HUSSAIN, MAHARRA

Publication type:

Case Study

Generation of Rho Zero Cells: Visualization and Quantification of the mtDNA Depletion Process.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 9850, doi. 10.3390/ijms16059850

By:

Schubert, Susanna;
Heller, Sandra;
Löffler, Birgit;
Schäfer, Ingo;
Seibel, Martina;
Villani, Gaetano;
Seibel, Peter

Publication type:

Article

Giant Cell Hepatitis in Mitochondrial DNA Depletion Syndrome Type 6.

Published in:

Tropical Gastroenterology, 2020, v. 41, n. 1, p. 32

By:

Vij, Mukul;
Sankaranarayanan, Srinivas

Publication type:

Article

MPV17 관련 간뇌 사립체 DNA 고갈 증후군.

Published in:

Korean Journal of Gastroenterology, 2021, v. 77, n. 5, p. 248, doi. 10.4166/kjg.2020.170

By:

홍기택;
임병찬;
문진수;
고재성

Publication type:

Article

Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome.

Published in:

2025

By:

Kishita, Yoshihito;
Sugiura, Ayumu;
Omichi, Nanako;
Shimura, Masaru;
Yatsuka, Yukiko;
Nakamura, Kohta;
Tanaka, Toju;
Kubota, Mitsuru;
Murayama, Kei;
Ohtake, Akira;
Okazaki, Yasushi

Publication type:

Case Study