Mevissen TET, Komander D. Mechanisms of Deubiquitinase Specificity and Regulation. Annu Rev Biochem. 2017;86:159–92.

Article  CAS  PubMed  Google Scholar 

Schauer NJ, Magin RS, Liu X, Doherty LM, Buhrlage SJ. Advances in Discovering Deubiquitinating Enzyme (DUB) Inhibitors. J Med Chem. 2020;63:2731–50.

Article  CAS  PubMed  Google Scholar 

Dufner A, Knobeloch KP. Ubiquitin-specific protease 8 (USP8/UBPy): a prototypic multidomain deubiquitinating enzyme with pleiotropic functions. Biochem Soc Trans. 2019;47:1867–79.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Durcan TM, Tang MY, Perusse JR, Dashti EA, Aguileta MA, McLelland GL, et al. USP8 regulates mitophagy by removing K6-linked ubiquitin conjugates from parkin. EMBO J. 2014;33:2473–91.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pearson G, Soleimanpour SA. A ubiquitin-dependent mitophagy complex maintains mitochondrial function and insulin secretion in beta cells. Autophagy. 2018;14:1160–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pearson G, Soleimanpour SA. Visualization of Endogenous Mitophagy Complexes In Situ in Human Pancreatic Beta Cells Utilizing Proximity Ligation Assay. J Vis Exp. 2019;147:10.3791/59398.

Kakihara K, Asamizu K, Moritsugu K, Kubo M, Kitaguchi T, Endo A, et al. Molecular basis of ubiquitin-specific protease 8 autoinhibition by the WW-like domain. Commun Biol. 2021;4:1272.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schoneberg J, Lee IH, Iwasa JH, Hurley JH. Reverse-topology membrane scission by the ESCRT proteins. Nat Rev Mol Cell Biol. 2017;18:5–17.

Article  CAS  PubMed  Google Scholar 

McCullough J, Frost A, Sundquist WI. Structures, Functions, and Dynamics of ESCRT-III/Vps4 Membrane Remodeling and Fission Complexes. Annu Rev Cell Dev Biol. 2018;34:85–109.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, et al. Mutations in the deubiquitinase gene USP8 cause Cushing’s disease. Nat Genet. 2015;47:31–8.

Article  CAS  PubMed  Google Scholar 

Theodoropoulou M, Reincke M. Genetics of Cushing’s disease: from the lab to clinical practice. Pituitary. 2022;25:689–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ma ZY, Song ZJ, Chen JH, Wang YF, Li SQ, Zhou LF, et al. Recurrent gain-of-function USP8 mutations in Cushing’s disease. Cell Res. 2015;25:306–17.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cohen M, Persky R, Stegemann R, Hernandez-Ramirez LC, Zeltser D, Lodish MB, et al. Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome. J Clin Endocrinol Metab. 2019;104:4676–82.

Article  PubMed  PubMed Central  Google Scholar 

Sakamoto M, Shiiki T, Matsui S, Okamoto N, Koshimizu E, Tsuchida N, et al. A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8. J Hum Genet. 2023;68:247–53.

Article  CAS  PubMed  Google Scholar 

Fromer M, Purcell SM. Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data. Curr Protoc Hum Genet. 2014;81::7 23 1–7 23 21.

PubMed  Google Scholar 

Nord AS, Lee M, King MC, Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics. 2011;12:184.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mori T, Sakamoto M, Tayama T, Goji A, Toda Y, Fujita A, et al. A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation. Brain Dev. 2023;45:395–400.

Article  CAS  PubMed  Google Scholar 

Mitsuhashi S, Ohori S, Katoh K, Frith MC, Matsumoto N. A pipeline for complete characterization of complex germline rearrangements from long DNA reads. Genome Med. 2020;12:67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pearson G, Chai B, Vozheiko T, Liu X, Kandarpa M, Piper RC, et al. Clec16a, Nrdp1, and USP8 Form a Ubiquitin-Dependent Tripartite Complex That Regulates beta-Cell Mitophagy. Diabetes. 2018;67:265–77.

Article  CAS  PubMed  Google Scholar 

Row PE, Liu H, Hayes S, Welchman R, Charalabous P, Hofmann K, et al. The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation. J Biol Chem. 2007;282:30929–37.

Article  CAS  PubMed  Google Scholar 

Mizuno E, Iura T, Mukai A, Yoshimori T, Kitamura N, Komada M. Regulation of epidermal growth factor receptor down-regulation by UBPY-mediated deubiquitination at endosomes. Mol Biol Cell. 2005;16:5163–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol. 2008;183:795–803.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mauri S, Bernardo G, Martinez A, Favaro M, Trevisan M, Cobraiville G, et al. USP8 Down-Regulation Promotes Parkin-Independent Mitophagy in the Drosophila Brain and in Human Neurons. Cells 2023;12:1143.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, et al. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013;93:197–210.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013;93:357–67.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, et al. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014;95:143–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

de Smith AJ, Walters RG, Coin LJ, Steinfeld I, Yakhini Z, Sladek R, et al. Small deletion variants have stable breakpoints commonly associated with alu elements. PLoS One. 2008;3:e3104.

Article  PubMed  PubMed Central  Google Scholar 

Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, et al. Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. Hum Mutat. 2021;42:50–65.

Article  CAS  PubMed  Google Scholar