Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome-Reference-Cited by-同舟云学术

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome

Published:2023-03-20 Issue:6 Volume:270 Page:3266-3269
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Nesti Claudia^ORCID,Ticci Chiara^ORCID,Rubegni Anna^ORCID,Doccini Stefano^ORCID,Scaturro Giusi^ORCID,Vetro Annalisa^ORCID,Guerrini Renzo^ORCID,Santorelli Filippo M.^ORCID,Procopio Elena^ORCID

Funder

Ministero della Salute

Regione Toscana

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s00415-023-11673-7.pdf

Reference12 articles.

1. Tebbenkamp ATN, Varela L, Choi J, Paredes MI, Giani AM, Song JE, Sestan-Pesa M, Franjic D, Sousa AMM, Liu ZW, Li M, Bichsel C, Koch M, Szigeti-Buck K, Liu F, Li Z, Kawasawa YI, Paspalas CD, Mineur YS, Prontera P, Merla G, Picciotto MR, Arnsten AFT, Horvath TL, Sestan N (2018) The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. Cell 175:1088-1104.e23. https://doi.org/10.1016/j.cell.2018.09.014

2. Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H (2021) Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy. J Clin Invest 131:e138267. https://doi.org/10.1172/JCI138267

3. Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M (2022) Expanding the phenotype of DNAJC30-associated Leigh syndrome. Clin Genet 102(5):438–443. https://doi.org/10.1111/cge.14196. (Epub 2022 Jul 29. PMID: 35861300)

4. Wiggs JL (2021) DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber’s hereditary optic neuropathy. J Clin Invest 131(6):e147734. https://doi.org/10.1172/JCI147734

5. Kieninger S, Xiao T, Weisschuh N, Kohl S, Rüther K, Kroisel PM, Brockmann T, Knappe S, Kellner U, Lagrèze W, Mazzola P, Haack TB, Wissinger B, Tonagel F (2022) DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy. J Med Genet 59:1027–1034. https://doi.org/10.1136/jmedgenet-2021-108235

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1. Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome;Neurologia i Neurochirurgia Polska;2024-08-28

2. Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology;International Journal of Molecular Sciences;2024-04-23

3. Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant;Brain;2024-03-13

4. DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients;International Journal of Molecular Sciences;2023-12-15

5. Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals;Frontiers in Neurology;2023-12-01