My Bibliography

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Sase S, Hacker JL, Napit PR, Bhagavatula A, Woidill S, D'Alessandro A, Jeffries MA, Almad A, Takanohashi A, Padiath QS, Grinspan JB, Marsh ED, Vanderver A. Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy. Mol Ther. 2026 May 6;34(5):2923-2943. doi: 10.1016/j.ymthe.2026.01.016. Epub 2026 Jan 20. PubMed PMID: 41566774; PubMed Central PMCID: PMC13154311.

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Dhamija R, Tobin WO, Cortelli P, Padiath Q, Muthusamy K, Singh Sekhon UD, Singh BJ, Harris D, Billings H, Mamillo K, Appleberry H, Giorgio E, Ratti S, Fogel BL, Gavrilova R, Raininko R, Cousin MA. Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy. Neurol Genet. 2025 Oct;11(5):e200287. doi: 10.1212/NXG.0000000000200287. eCollection 2025 Oct. Review. PubMed PMID: 40933505; PubMed Central PMCID: PMC12418807.

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Vollmer LL, Liu F, Nmezi B, Bey GR, Herdman N, Shun TY, Gough A, Liu R, Wipf P, Lezon TR, Padiath QS, Vogt A. A high throughput, high content screen for non-toxic small molecules that reduce levels of the nuclear lamina protein, Lamin B1. Sci Rep. 2025 Mar 1;15(1):7314. doi: 10.1038/s41598-025-91546-3. PubMed PMID: 40025114; PubMed Central PMCID: PMC11873125.

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Nmezi B, Rodriguez Bey G, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Loeza-Alcocer E, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold MS, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants. Nat Commun. 2025 Feb 5;16(1):1373. doi: 10.1038/s41467-025-56378-9. PubMed PMID: 39910058; PubMed Central PMCID: PMC11799162.

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Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. PubMed PMID: 39292993; PubMed Central PMCID: PMC11733690.

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Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants. bioRxiv. 2023 Aug 9;. doi: 10.1101/2023.08.03.551473. PubMed PMID: 37609196; PubMed Central PMCID: PMC10441294.

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Bey GR, Padiath QS. Enhanced differentiation of the mouse oli-neu oligodendroglial cell line using optimized culture conditions. BMC Res Notes. 2023 Aug 4;16(1):161. doi: 10.1186/s13104-023-06432-w. PubMed PMID: 37542275; PubMed Central PMCID: PMC10401818.

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Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, Cousin M, Giorgio E, Padiath QS, Vaula G, Cortelli P, Manzoli L, Ratti S. Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models. Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14. Review. PubMed PMID: 37450245; PubMed Central PMCID: PMC10533580.

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do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. Brain. 2022 Dec 19;145(12):4202-4209. doi: 10.1093/brain/awac295. PubMed PMID: 35953447; PubMed Central PMCID: PMC10200305.

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Bai Y, Qin Y, Fan Z, Morrison RM, Nam K, Zarour HM, Koldamova R, Padiath QS, Kim S, Park HJ. scMAPA: Identification of cell-type-specific alternative polyadenylation in complex tissues. Gigascience. 2022 Apr 30;11. doi: 10.1093/gigascience/giac033. PubMed PMID: 35488860; PubMed Central PMCID: PMC9055853.

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Bijarnia-Mahay S, Roy G, Padiath QS, Saxena R, Verma IC. LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family. Ann Indian Acad Neurol. 2021 May-Jun;24(3):413-416. doi: 10.4103/aian.AIAN_1262_20. Epub 2021 May 21. PubMed PMID: 34447008; PubMed Central PMCID: PMC8370147.

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Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 5. PubMed PMID: 33666368; PubMed Central PMCID: PMC8123744.

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Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. PubMed PMID: 32913013; PubMed Central PMCID: PMC7734736.

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Sase S, Almad AA, Boecker CA, Guedes-Dias P, Li JJ, Takanohashi A, Patel A, McCaffrey T, Patel H, Sirdeshpande D, Curiel J, Shih-Hwa Liu J, Padiath Q, Holzbaur EL, Scherer SS, Vanderver A. TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model. Elife. 2020 May 28;9. doi: 10.7554/eLife.52986. PubMed PMID: 32463361; PubMed Central PMCID: PMC7255805.

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Nmezi B, Vollmer LL, Shun TY, Gough A, Rolyan H, Liu F, Jia Y, Padiath QS, Vogt A. Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy. SLAS Discov. 2020 Sep;25(8):939-949. doi: 10.1177/2472555220915821. Epub 2020 Apr 30. PubMed PMID: 32349647; PubMed Central PMCID: PMC7755098.

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Guzman KM, Brink LE, Rodriguez-Bey G, Bodnar RJ, Kuang L, Xing B, Sullivan M, Park HJ, Koppes E, Zhu H, Padiath Q, Cambi F. Conditional depletion of Fus in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation. Glia. 2020 Oct;68(10):2040-2056. doi: 10.1002/glia.23825. Epub 2020 Mar 18. PubMed PMID: 32187401; PubMed Central PMCID: PMC7772959.

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Padiath QS. Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina. Front Cell Dev Biol. 2019;7:41. doi: 10.3389/fcell.2019.00041. eCollection 2019. Review. PubMed PMID: 30949481; PubMed Central PMCID: PMC6435485.

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Nmezi B, Xu J, Fu R, Armiger TJ, Rodriguez-Bey G, Powell JS, Ma H, Sullivan M, Tu Y, Chen NY, Young SG, Stolz DB, Dahl KN, Liu Y, Padiath QS. Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina. Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4307-4315. doi: 10.1073/pnas.1810070116. Epub 2019 Feb 14. PubMed PMID: 30765529; PubMed Central PMCID: PMC6410836.

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Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS. Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. Neurol Genet. 2019 Feb;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb. PubMed PMID: 30842973; PubMed Central PMCID: PMC6384018.

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Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI, VWM Research Group, van der Knaap MS. Natural History of Vanishing White Matter. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. PubMed PMID: 30014503; PubMed Central PMCID: PMC6175238.

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Lo Martire V, Alvente S, Bastianini S, Berteotti C, Bombardi C, Calandra-Buonaura G, Capellari S, Cohen G, Cortelli P, Gasparini L, Padiath Q, Valli A, Zoccoli G, Silvani A. Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD). Exp Neurol. 2018 Mar;301(Pt A):1-12. doi: 10.1016/j.expneurol.2017.12.006. Epub 2017 Dec 17. PubMed PMID: 29262292; PubMed Central PMCID: PMC5809293.

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Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A. TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338. PubMed PMID: 28973395; PubMed Central PMCID: PMC7462055.

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Padiath QS. Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies. Nucleus. 2016 Nov;7(6):547-553. doi: 10.1080/19491034.2016.1260799. Review. PubMed PMID: 27854160; PubMed Central PMCID: PMC5214339.

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Potic A, Nmezi B, Padiath QS. CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. J Neurol Sci. 2015 Nov 15;358(1-2):453-6. doi: 10.1016/j.jns.2015.10.002. Epub 2015 Oct 3. PubMed PMID: 26453127.

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Rolyan H, Tyurina YY, Hernandez M, Amoscato AA, Sparvero LJ, Nmezi BC, Lu Y, Estécio MR, Lin K, Chen J, He RR, Gong P, Rigatti LH, Dupree J, Bayır H, Kagan VE, Casaccia P, Padiath QS. Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression. J Neurosci. 2015 Aug 26;35(34):12002-17. doi: 10.1523/JNEUROSCI.1668-15.2015. PubMed PMID: 26311780; PubMed Central PMCID: PMC4549407.

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Mancini C, Orsi L, Guo Y, Li J, Chen Y, Wang F, Tian L, Liu X, Zhang J, Jiang H, Nmezi BS, Tatsuta T, Giorgio E, Di Gregorio E, Cavalieri S, Pozzi E, Mortara P, Caglio MM, Balducci A, Pinessi L, Langer T, Padiath QS, Hakonarson H, Zhang X, Brusco A. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0. PubMed PMID: 25927548; PubMed Central PMCID: PMC4422141.

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Mancini C, Nassani S, Guo Y, Chen Y, Giorgio E, Brussino A, Di Gregorio E, Cavalieri S, Lo Buono N, Funaro A, Pizio NR, Nmezi B, Kyttala A, Santorelli FM, Padiath QS, Hakonarson H, Zhang H, Brusco A. Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. J Neurol. 2015 Jan;262(1):173-8. doi: 10.1007/s00415-014-7553-y. Epub 2014 Oct 31. PubMed PMID: 25359263.

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Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G, 4H Research Group. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. PubMed PMID: 25339210; PubMed Central PMCID: PMC4248461.

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Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902. doi: 10.1212/WNL.0000000000000754. Epub 2014 Aug 1. PubMed PMID: 25085639; PubMed Central PMCID: PMC4153852.

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Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. PubMed PMID: 23649844; PubMed Central PMCID: PMC3714349.

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Heng MY, Lin ST, Verret L, Huang Y, Kamiya S, Padiath QS, Tong Y, Palop JJ, Huang EJ, Ptáček LJ, Fu YH. Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J Clin Invest. 2013 Jun;123(6):2719-29. doi: 10.1172/JCI66737. Epub 2013 May 15. PubMed PMID: 23676464; PubMed Central PMCID: PMC3668844.

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Padiath QS, Fu YH. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods Cell Biol. 2010;98:337-57. doi: 10.1016/S0091-679X(10)98014-X. Review. PubMed PMID: 20816241.

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Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptácek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3. PubMed PMID: 16951681.

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Xu Y, Padiath QS, Shapiro RE, Jones CR, Wu SC, Saigoh N, Saigoh K, Ptácek LJ, Fu YH. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005 Mar 31;434(7033):640-4. doi: 10.1038/nature03453. PubMed PMID: 15800623.

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Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5;133B(1):124-6. doi: 10.1002/ajmg.b.30088. PubMed PMID: 15457499.

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Padiath QS, Rao BJ. Chance in our strands?. J Genet. 2004 Aug;83(2):117-9. doi: 10.1007/BF02729890. PubMed PMID: 15536252.

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Verma R, Chauhan C, Saleem Q, Gandhi C, Jain S, Brahmachari SK. A nonsense mutation in the synaptogyrin 1 gene in a family with schizophrenia. Biol Psychiatry. 2004 Jan 15;55(2):196-9. doi: 10.1016/j.biopsych.2003.10.012. PubMed PMID: 14732601.

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Padiath QS, Paranjpe D, Jain S, Sharma VK. Glycogen synthase kinase 3beta as a likely target for the action of lithium on circadian clocks. Chronobiol Int. 2004 Jan;21(1):43-55. doi: 10.1081/cbi-120027981. PubMed PMID: 15129823.

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Saleem Q, Roy S, Murgood U, Saxena R, Verma IC, Anand A, Muthane U, Jain S, Brahmachari SK. Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population. Acta Neurol Scand. 2003 Oct;108(4):281-6. doi: 10.1034/j.1600-0404.2003.00133.x. PubMed PMID: 12956863.

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Mukherjee O, Saleem Q, Purushottam M, Anand A, Brahmachari SK, Jain S. Common psychiatric diseases and human genetic variation. Community Genet. 2002;5(3):171-7. doi: 10.1159/000066332. PubMed PMID: 14960887.

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Saleem Q, Muthane U, Verma IC, Brahmachari SK, Jain S. Expanding colonies and expanding repeats. Lancet. 2002 Mar 9;359(9309):895-6. doi: 10.1016/S0140-6736(02)07941-2. PubMed PMID: 11897323.

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Saleem Q, Dash D, Gandhi C, Kishore A, Benegal V, Sherrin T, Mukherjee O, Jain S, Brahmachari SK. Association of CAG repeat loci on chromosome 22 with schizophrenia and bipolar disorder. Mol Psychiatry. 2001 Nov;6(6):694-700. doi: 10.1038/sj.mp.4000924. PubMed PMID: 11673798.

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Murgod UA, Saleem Q, Anand A, Brahmachari SK, Jain S, Muthane UB. A clinical study of patients with genetically confirmed Huntington's disease from India. J Neurol Sci. 2001 Sep 15;190(1-2):73-8. doi: 10.1016/s0022-510x(01)00593-7. PubMed PMID: 11574110.

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Saleem Q, Anand A, Jain S, Brahmachari SK. The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans. Hum Genet. 2001 Aug;109(2):136-42. doi: 10.1007/s004390100550. PubMed PMID: 11511917.

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Saleem Q, Sreevidya VS, Sudhir J, Savithri JV, Gowda Y, B-Rao C, Benegal V, Majumder PP, Anand A, Brahmachari SK, Jain S. Association analysis of CAG repeats at the KCNN3 locus in Indian patients with bipolar disorder and schizophrenia. Am J Med Genet. 2000 Dec 4;96(6):744-8. doi: 10.1002/1096-8628(20001204)96:6<744::aid-ajmg9>3.0.co;2-z. PubMed PMID: 11121173.

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Mukerji M, Choudhry S, Saleem Q, Padma MV, Maheshwari MC, Jain S. Molecular analysis of Friedreich's ataxia locus in the Indian population. Acta Neurol Scand. 2000 Oct;102(4):227-9. doi: 10.1034/j.1600-0404.2000.102004227.x. PubMed PMID: 11071107.

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Brahmachari SK, Sharma D, Sharma S, Pasha S, Sen S, Saleem Q. Probing the polyglutamine puzzle in neurological disorders. FEBS Lett. 2000 Apr 21;472(1):167-168. doi: 10.1016/s0014-5793(00)01382-x. PubMed PMID: 10781827.

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Saleem Q, Ganesh S, Vijaykumar M, Reddy YC, Brahmachari SK, Jain S. Association analysis of 5HT transporter gene in bipolar disorder in the Indian population. Am J Med Genet. 2000 Apr 3;96(2):170-2. PubMed PMID: 10893491.

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Saleem Q, Choudhry S, Mukerji M, Bashyam L, Padma MV, Chakravarthy A, Maheshwari MC, Jain S, Brahmachari SK. Molecular analysis of autosomal dominant hereditary ataxias in the Indian population: high frequency of SCA2 and evidence for a common founder mutation. Hum Genet. 2000 Feb;106(2):179-87. doi: 10.1007/s004390051026. PubMed PMID: 10746559.

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Saleem Q, Vijayakumar M, Mutsuddi M, Chowdhary N, Jain S, Brahmachari SK. Variation at the MJD locus in the major psychoses. Am J Med Genet. 1998 Sep 7;81(5):440-2. PubMed PMID: 9754631.