Literature DB >> 27430653

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.

Gavin Charlesworth1, Bettina Balint2,3, Niccolò E Mencacci1, Lucinda Carr4, Nicholas W Wood1, Kailash P Bhatia2.   

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Year:  2016        PMID： 27430653     DOI： 10.1002/mds.26716

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  14 in total

1.  Insights into the genotype-phenotype correlation and molecular function of SLC25A46.

Authors:  Alexander J Abrams; Flavia Fontanesi; Natalie B L Tan; Elena Buglo; Ion J Campeanu; Adriana P Rebelo; Andrew J Kornberg; Dean G Phelan; Zornitza Stark; Stephan Zuchner
Journal:  Hum Mutat       Date:  2018-09-17       Impact factor: 4.878

2.  Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.

Authors:  Zhuo Li; Yanyan Peng; Robert B Hufnagel; Yueh-Chiang Hu; Chuntao Zhao; Luis F Queme; Zaza Khuchua; Ashley M Driver; Fei Dong; Q Richard Lu; Diana M Lindquist; Michael P Jankowski; Rolf W Stottmann; Winston W Y Kao; Taosheng Huang
Journal:  Hum Mol Genet       Date:  2017-10-01       Impact factor: 6.150

3.  Association between dietary patterns reflecting one-carbon metabolism nutrients intake before pregnancy and placental DNA methylation.

Authors:  Marion Lecorguillé; Marie-Aline Charles; Johanna Lepeule; Sandrine Lioret; Blandine de Lauzon-Guillain; Anne Forhan; Jörg Tost; Matthew Suderman; Barbara Heude
Journal:  Epigenetics       Date:  2021-08-31       Impact factor: 4.861

4.  Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice.

Authors:  Li Yang; Jesse Slone; Zhuo Li; Xiaoting Lou; Yueh-Chiang Hu; Luis F Queme; Michael P Jankowski; Taosheng Huang
Journal:  Hum Mol Genet       Date:  2020-03-13       Impact factor: 6.150

5.  Dystonia and Hereditary Motor Sensory Neuropathy 6B Due to SLC25A46 Gene Mutations.

Authors:  Srinivas Raju; Soumya Medarametla; Nataraju Boraiah
Journal:  Mov Disord Clin Pract       Date:  2021-01-29

6.  Nanoscopic quantification of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in living cells derived from patients with mitochondrial diseases.

Authors:  Weiwei Zou; Qixin Chen; Jesse Slone; Li Yang; Xiaoting Lou; Jiajie Diao; Taosheng Huang
Journal:  J Nanobiotechnology       Date:  2021-05-13       Impact factor: 10.435

7.  Novel insights into SLC25A46-related pathologies in a genetic mouse model.

Authors:  Maria Eirini Terzenidou; Aikaterini Segklia; Toshimi Kano; Florentia Papastefanaki; Alexandros Karakostas; Maria Charalambous; Fotis Ioakeimidis; Maria Papadaki; Ismini Kloukina; Margarita Chrysanthou-Piterou; Martina Samiotaki; George Panayotou; Rebecca Matsas; Eleni Douni
Journal:  PLoS Genet       Date:  2017-04-04       Impact factor: 5.917

8.  Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan.

Authors:  Md Saheb Ali; Kojiro Suda; Ryosuke Kowada; Ibuki Ueoka; Hideki Yoshida; Masamitsu Yamaguchi
Journal:  IBRO Rep       Date:  2020-02-19

9.  Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.

Authors:  Elena Buglo; Evan Sarmiento; Nicole Belliard Martuscelli; David W Sant; Matt C Danzi; Alexander J Abrams; Julia E Dallman; Stephan Züchner
Journal:  PLoS One       Date:  2020-03-24       Impact factor: 3.240

Review 10.  Drosophila melanogaster Mitochondrial Carriers: Similarities and Differences with the Human Carriers.

Authors:  Rosita Curcio; Paola Lunetti; Vincenzo Zara; Alessandra Ferramosca; Federica Marra; Giuseppe Fiermonte; Anna Rita Cappello; Francesco De Leonardis; Loredana Capobianco; Vincenza Dolce
Journal:  Int J Mol Sci       Date:  2020-08-22       Impact factor: 5.923
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