Teng Y, Lang L, Shay C. ATAD3A on the Path to Cancer. In: Guest PC, editor. reviews on biomarker studies of metabolic and metabolism-related disorders [Internet]. Cham: Springer International Publishing; 2019 [cited 2023 Aug 18]. p. 259–69. http://link.springer.com/https://doi.org/10.1007/978-3-030-12668-1_14

Chen L, Li Y, Zambidis A, Papadopoulos V. ATAD3A: a key regulator of mitochondria-associated diseases. Int J Mol Sci. 2023;24:12511.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gilquin B, Taillebourg E, Cherradi N, Hubstenberger A, Gay O, Merle N, et al. The AAA+ ATPase ATAD3A controls mitochondrial dynamics at the interface of the inner and outer membranes. Mol Cell Biol. 2010;30:1984–96.

Article  CAS  PubMed  PubMed Central  Google Scholar 

He J, Mao C-C, Reyes A, Sembongi H, Di Re M, Granycome C, et al. The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol. 2007;176:141–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Arguello T, Peralta S, Antonicka H, Gaidosh G, Diaz F, Tu Y-T, et al. ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly. Cell Rep. 2021;37: 110139.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Peralta S, Goffart S, Williams SL, Diaz F, Garcia S, Nissanka N, et al. ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels. J Cell Sci. 2018. https://doi.org/10.1242/jcs.217075.

Article  PubMed  PubMed Central  Google Scholar 

Zhao Y, Hu D, Wang R, Sun X, Ropelewski P, Hubler Z, et al. ATAD3A oligomerization promotes neuropathology and cognitive deficits in Alzheimer’s disease models. Nat Commun. 2022;13:1121.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao Y, Sun X, Hu D, Prosdocimo DA, Hoppel C, Jain MK, et al. ATAD3A oligomerization causes neurodegeneration by coupling mitochondrial fragmentation and bioenergetics defects. Nat Commun. 2019;10:1371.

Article  PubMed  PubMed Central  Google Scholar 

Goller T, Seibold UK, Kremmer E, Voos W, Kolanus W. Atad3 function is essential for early post-implantation development in the mouse. PLoS ONE. 2013;8: e54799.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lang L, Loveless R, Dou J, Lam T, Chen A, Wang F, et al. ATAD3A mediates activation of RAS-independent mitochondrial ERK1/2 signaling, favoring head and neck cancer development. J Exp Clin Cancer Res. 2022;41:43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jin G, Xu C, Zhang X, Long J, Rezaeian AH, Liu C, et al. Atad3a suppresses Pink1-dependent mitophagy to maintain homeostasis of hematopoietic progenitor cells. Nat Immunol. 2018;19:29–40.

Article  CAS  PubMed  Google Scholar 

Chen L, Li Y, Sottas C, Lazaris A, Petrillo SK, Metrakos P, et al. Loss of mitochondrial ATPase ATAD3A contributes to nonalcoholic fatty liver disease through accumulation of lipids and damaged mitochondria. J Biol Chem. 2022;298: 102008.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Brar KK, Hughes DT, Morris JL, Subramanian K, Krishna S, Gao F, et al. PERK-ATAD3A interaction provides a subcellular safe haven for protein synthesis during ER stress. Science. 2024. https://doi.org/10.1126/science.adp7114.

Article  PubMed  Google Scholar 

Issop L, Fan J, Lee S, Rone MB, Basu K, Mui J, et al. Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3. Endocrinology. 2015;156:334–45.

Article  PubMed  Google Scholar 

Peres de Oliveira A, Basei FL, Slepicka PF, de Castro FC, Melo-Hanchuk TD, de Souza EE, et al. K10 interactome and depletion reveal new roles in mitochondria. Proteome Sci. 2020. https://doi.org/10.1002/2211-5463.13108.

Article  PubMed  PubMed Central  Google Scholar 

Tawfik CA, Zaitoun R, Farag AA. Harel Yoon syndrome: a novel mutation in ATAD3A gene and expansion of the clinical spectrum. Ophthalmic Genet. 2023;44:226–33.

Article  CAS  PubMed  Google Scholar 

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, et al. Recurrent de novo and biallelic Variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet. 2016;99:831–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang S, Lin L, Li Y, Peng C, Lin Y, Liu Y, et al. Harel-Yoon syndrome caused by a novel variant in ATAD3A: a case report. Heliyon. 2024;10: e23669.

Article  CAS  PubMed  Google Scholar 

Qi R, Li R, Yang W, Sang Y. Harel-Yoon syndrome caused by the c.368G>A variant in the ATAD3A gene: a case report. Asian J Surg. 2022;45(1):914–6.

Article  PubMed  Google Scholar 

Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, et al. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021;13:55.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, et al. ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability. Orphanet J Rare Dis. 2023;18:92.

Article  PubMed  PubMed Central  Google Scholar 

Cooper HM, Yang Y, Ylikallio E, Khairullin R, Woldegebriel R, Lin K-L, et al. ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia. Hum Mol Genet. 2017;26:1432–43.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, et al. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y). 2021;2:49–73.

CAS  Google Scholar 

Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, et al. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain. 2017;140:1595–610.

Article  PubMed  PubMed Central  Google Scholar 

Peralta S, González-Quintana A, Ybarra M, Delmiro A, Pérez-Pérez R, Docampo J, et al. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities. Mol Genet Metab. 2019;128:452–62.

Article  CAS  PubMed  Google Scholar 

Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, et al. Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion. Mol Genet Metab Rep. 2022;33: 100912.

CAS  PubMed  PubMed Central  Google Scholar 

Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, et al. A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome. Neurol Genet. 2020;6: e452.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen Y, Rong S, Luo H, Huang B, Hu F, Chen M, et al. Ketogenic diet attenuates refractory epilepsy of harel-yoon syndrome with ATAD3A variants: a case report and review of literature. Pediatr Neurol. 2023;143:79–83.

Article  PubMed  Google Scholar 

Abdul-Raheem J, Nikkola E, Chen Z, Rohena L. Expanding phenotype of Harel-Yoon syndrome: a case report suggesting a genotype/phenotype correlation. Ame J Med Genet Pt A. 2024. https://doi.org/10.1002/ajmg.a.63647.

Article  Google Scholar 

Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, et al. Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A. J Exp Med. 2021. https://doi.org/10.1084/jem.20201560.

Article  PubMed  PubMed