Anazi S, Maddirevula S, Faqeih E, Alsedairy H, Alzahrani F, Shamseldin HE et al (2017) Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatr 22:615–624
Banerjee S, Kumar M, Wiener R (2020) Decrypting UFMylation: how proteins are modified with UFM1. Biomolecules 10
Cappadocia L, Lima CD (2018) Ubiquitin-like protein conjugation: structures, Chemistry, and mechanism. Chem Rev 118:889–918
Article CAS PubMed Google Scholar
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB et al (2016) Biallelic variants in UBA5 reveal that disruption of the UFM1 Cascade can result in early-onset Encephalopathy. Am J Hum Genet 99:695–703
Article CAS PubMed PubMed Central Google Scholar
Dang F, Nie L, Wei W (2021) Ubiquitin signaling in cell cycle control and tumorigenesis. Cell Death Differ 28:427–438
Article CAS PubMed Google Scholar
Gavin JM, Hoar K, Xu Q, Ma J, Lin Y, Chen J et al (2014) Mechanistic study of Uba5 enzyme and the Ufm1 conjugation pathway. J Biol Chem 289:22648–22658
Article CAS PubMed PubMed Central Google Scholar
K ST, Joshi G, Arya P, Mahajan V, Chaturvedi A, Mishra RK (2021) SUMO and SUMOylation pathway at the forefront of host Immune Response. Front Cell Dev Biol 9:681057
Article PubMed PubMed Central Google Scholar
Karpiyevich M, Artavanis-Tsakonas K (2020) Ubiquitin-Like Modifiers: Emerging Regulators of Protozoan Parasites. Biomolecules 10
Khalil R (2018) Ubiquitin-proteasome pathway and muscle atrophy. Adv Exp Med Biol 1088:235–248
Article CAS PubMed Google Scholar
Komatsu M, Chiba T, Tatsumi K, Iemura S, Tanida I, Okazaki N et al (2004) A novel protein-conjugating system for Ufm1, a ubiquitin-fold modifier. EMBO J 23:1977–1986
Article CAS PubMed PubMed Central Google Scholar
Kumar M, Padala P, Fahoum J, Hassouna F, Tsaban T, Zoltsman G et al (2021) Structural basis for UFM1 transfer from UBA5 to UFC1. Nat Commun 12:5708
Article CAS PubMed PubMed Central Google Scholar
Le Guerroué F, Youle RJ (2021) Ubiquitin signaling in neurodegenerative diseases: an autophagy and proteasome perspective. Cell Death Differ 28:439–454
Mizushima T, Tatsumi K, Ozaki Y, Kawakami T, Suzuki A, Ogasahara K et al (2007) Crystal structure of Ufc1, the Ufm1-conjugating enzyme. Biochem Biophys Res Commun 362:1079–1084
Article CAS PubMed Google Scholar
Nahorski MS, Maddirevula S, Ishimura R, Alsahli S, Brady AF, Begemann A et al (2018) Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain 141:1934–1945
Article PubMed PubMed Central Google Scholar
Olson L, Bishop S, Thurm A (2024) Differential diagnosis of Autism and other Neurodevelopmental disorders. Pediatr Clin North Am 71:157–177
Papuc SM, Abela L, Steindl K, Begemann A, Simmons TL, Schmitt B et al (2019) The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. Eur J Hum Genet 27:408–421
Article CAS PubMed Google Scholar
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R et al (2022) Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Am J Hum Genet 109:2163–2177
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424
Article PubMed PubMed Central Google Scholar
Schwabe I, Jović M, Rimfeld K, Allegrini AG, van den Berg SM (2024) Genotype-Environment Interaction in ADHD: genetic predisposition determines the extent to which environmental influences explain variability in the Symptom dimensions hyperactivity and inattention. Behav Genet 54:169–180
Article PubMed PubMed Central Google Scholar
Shafi S, Singh A, Gupta P, Chawla PA, Fayaz F, Sharma A et al (2021) Deciphering the role of aberrant protein post-translational modification in the Pathology of Neurodegeneration. CNS Neurol Disord Drug Targets 20:54–67
Article CAS PubMed Google Scholar
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK et al (2019) Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med 21:2413–2421
Article PubMed PubMed Central Google Scholar
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto MC, Sandoni L et al (2024) Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates. NPJ Genom Med 9:21
Article CAS PubMed PubMed Central Google Scholar
Witting KF, Mulder MPC (2021) Highly Specialized Ubiquitin-Like Modifications: Shedding Light into the UFM1 Enigma. Biomolecules 11
Yu L, Li G, Deng J, Jiang X, Xue J, Zhu Y et al (2020) The UFM1 cascade times mitosis entry associated with microcephaly. FASEB J 34:1319–1330
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