Research & Literature

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

Claeys KG, Abicht A, Häusler M, et al.

Muscle & nerve 2016; (54(2)):328-33 doi:10.1002/mus.25125.

Management of Cystoid Macular Edema in Retinitis Pigmentosa.

Huckfeldt RM, Comander J

Seminars in ophthalmology 2017; (32(1)):43-51 doi:10.1080/08820538.2016.1228404.

Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening.

Alila-Fersi O, Chamkha I, Majdoub I, et al.

Biochemical and biophysical research communications 2017; (484(1)):71-78 doi:10.1016/j.bbrc.2017.01.070.

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Sallevelt SC, Dreesen JC, Drüsedau M, et al.

Human reproduction (Oxford, England) 2017; (32(3)):698-703 doi:10.1093/humrep/dew356.

Recent Advances in Mitochondrial Disease.

Craven L, Alston CL, Taylor RW, Turnbull DM

Annual review of genomics and human genetics 2017; (18()):257-275 doi:10.1146/annurev-genom-091416-035426.

Genetic Counselling for Maternally Inherited Mitochondrial Disorders.

Poulton J, Finsterer J, Yu-Wai-Man P

Molecular diagnosis & therapy 2017; (21(4)):419-429 doi:10.1007/s40291-017-0279-7.

Selection of mitochondria in female germline cells: is Balbiani body implicated in this process?

Bilinski SM, Kloc M, Tworzydlo W

Journal of assisted reproduction and genetics 2017; (34(11)):1405-1412 doi:10.1007/s10815-017-1006-3.

Treatment of cystoid macular edema secondary to retinitis pigmentosa: a systematic review.

Bakthavatchalam M, Lai FHP, Rong SS, et al.

Survey of ophthalmology 2018; (63(3)):329-339 doi:10.1016/j.survophthal.2017.09.009.

A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.

Mordel P, Schaeffer S, Dupas Q, et al.

Biochemical and biophysical research communications 2017; (494(1-2)):133-137 doi:10.1016/j.bbrc.2017.10.066.

Renal Involvement in Neuropathy, Ataxia, Retinitis Pigmentosa (NARP) Syndrome: A Case Report.

Lemoine S, Panaye M, Rabeyrin M, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2018; (71(5)):754-757 doi:10.1053/j.ajkd.2017.09.020.

A Population Phylogenetic View of Mitochondrial Heteroplasmy.

Wilton PR, Zaidi A, Makova K, Nielsen R

Genetics 2018; (208(3)):1261-1274 doi:10.1534/genetics.118.300711.

Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant.

Gropman A, Chiaramello A

Molecular genetics and metabolism reports 2018; (15()):134 doi:10.1016/j.ymgmr.2018.04.004.

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.

Yu XL, Yan CZ, Ji KQ, et al.

Chinese medical journal 2018; (131(22)):2705-2712 doi:10.4103/0366-6999.245265.

The first deaf-blind patient in Russia with Argus II retinal prosthesis system: what he sees and why.

Demchinsky AM, Shaimov TB, Goranskaya DN, et al.

Journal of neural engineering 2019; (16(2)):025002 doi:10.1088/1741-2552/aafc76.

Phenotypic and genotypic peculiarities in Chinese patients with Leigh syndrome.

Finsterer J

Chinese medical journal 2019; (132(5)):626-629 doi:10.1097/CM9.0000000000000090.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, et al.

Annals of neurology 2019; (86(2)):310-315 doi:10.1002/ana.25525.

Autologous mitochondrial microinjection; a strategy to improve the oocyte quality and subsequent reproductive outcome during aging.

Mobarak H, Heidarpour M, Tsai PJ, et al.

Cell & bioscience 2019; (9()):95 doi:10.1186/s13578-019-0360-5.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations.

Bugiardini E, Bottani E, Marchet S, et al.

Neurology. Genetics 2020; (6(1)):e381 doi:10.1212/NXG.0000000000000381.

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Stendel C, Neuhofer C, Floride E, et al.

Neurology. Genetics 2020; (6(1)):e393 doi:10.1212/NXG.0000000000000393.

Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase.

Ding Q, Kucharczyk R, Zhao W, et al.

Life (Basel, Switzerland) 2020; (10(9)) doi:10.3390/life10090215.

Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Licchetta L, Ferri L, La Morgia C, et al.

Annals of clinical and translational neurology 2021; (8(3)):704-710 doi:10.1002/acn3.51259.

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.

Saneto RP, Patrick KE, Perez FA

Mitochondrion 2021; (59()):58-62 doi:10.1016/j.mito.2021.04.010.

Mitochondrial disease in adults: recent advances and future promise.

Ng YS, Bindoff LA, Gorman GS, et al.

The Lancet. Neurology 2021; (20(7)):573-584 doi:10.1016/S1474-4422(21)00098-3.

Mitochondrial Retinopathy.

Birtel J, von Landenberg C, Gliem M, et al.

Ophthalmology. Retina 2022; (6(1)):65-79 doi:10.1016/j.oret.2021.02.017.

Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid.

Elghawy O, Zhang AY, Duong R, et al.

Case reports in ophthalmological medicine 2021; (2021()):1345937 doi:10.1155/2021/1345937.

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.

Vaughan DP, Costello DJ

American journal of medical genetics. Part A 2022; (188(4)):1259-1262 doi:10.1002/ajmg.a.62612.

Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia.

Roeben B, Bültmann E, Stendel C, Synofzik M

Annals of neurology 2022; (91(3)):438-440 doi:10.1002/ana.26311.

Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.

Henke MT, Zink A, Diecke S, et al.

Stem cell research 2023; (67()):103030 doi:10.1016/j.scr.2023.103030.

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.

Finsterer J

Journal of clinical neuromuscular disease 2023; (24(3)):140-146 doi:10.1097/CND.0000000000000422.

The mitochondrial tRNA MT-TW m.5537_5538insT variant presents with significant intra-familial clinical variability.

Strasser L, Doja A, Davila J, et al.

American journal of medical genetics. Part A 2023; (191(12)):2890-2897 doi:10.1002/ajmg.a.63378.

Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.

Rabinovich M, Zambrowski O, Miere A, et al.

Ophthalmic genetics 2024; (45(2)):193-200 doi:10.1080/13816810.2023.2253905.

"Hole" Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing.

McNamara RC, Zven S, Horvat DE, et al.

Pediatric neurology 2024; (152()):1-3 doi:10.1016/j.pediatrneurol.2023.11.017.

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement.

Takeuchi Y, Masuda T, Kimura N, et al.

Internal medicine (Tokyo, Japan) 2024; (63(24)):3371-3375 doi:10.2169/internalmedicine.3417-23.

A histidine-rich extension of the mitochondrial F0 subunit ATP6 from the ice worm Mesenchytraeus solifugus increases ATP synthase activity in bacteria.

Dunkley T, Shain DH, Klein EA

FEBS letters 2025; (599(8)):1113-1121 doi:10.1002/1873-3468.15100.

The bottleneck for maternal transmission of mtDNA is linked to purifying selection by autophagy.

Kremer LS, Golder Z, Barton-Owen T, et al.

Science advances 2025; (11(46)):eaea4660 doi:10.1126/sciadv.aea4660.

Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.

Rotuski G, Paczwa K, Mędrzycka J, et al.

Journal of clinical medicine 2025; (14(22)) doi:10.3390/jcm14228236.