The major focus of the Padiath lab is to understand the molecular mechanisms underlying various neurological disorders. To achieve this, the lab uses human genetic approaches as well as research on model organisms such as mice and flies. Presently, we are studying the genetic basis of the a class of demyelinating disorders know as leukodystrophies.
A major focus of lab is the adult onset demyelinating disorder, Autosomal Dominant Leukodystrophy (ADLD) that is caused by the overexpression of the nuclear lamina protein, Lamin B1.
We hope that understanding demyelinating disease mechanisms will help us identify novel pathways that regulate myelin formation and maintenance.
Research Interests:
Molecular mechanisms of neurological disorders, especially myelin formation and maintenance, using data on humans and mouse and fruit fly models.
Molecular organization and structure of the nuclear lamina
1995 | Kilpauk Medical College, Madras, Dr. MGR Medical University, Madras, India | Bachelor of Medicine and Surgery (MBBS)
2001 | Indian Institute of Science, Bangalore, India | Doctor of Philosophy (PhD)
Hugen 2040: Molecular Basis of Inherited Disease
HUGEN2034: Biochemical and Molecular Genetics of Complex Diseases
HUGEN2032: Genetic Techniques
MSNBIO 2112: Neurobiology of Disease
MED 5115 Genetics - Human Genetics
MSNBIO 2101 / NROSCI 2101: Cell and Molecular Neurobiology
- Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects. Elizabeth A. Werren, Guillermo Rodriguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J Patil, Alexandra Afenjar, Lydie Burglen, Hoda Tomoum, Florence Demurger, Reza Maroofian, Shahyan Siddiqui, Yao-Chang Tsan, Quasar Saleem Padiath*, Stephanie L. Bielas,*, Anju Shukla,*, Brain. (2024), PMID: 39292993.
- Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. 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*. Brain. (2022), PMID: 35953447.
- 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*.A concentric model for the spatial organization of the nuclear lamina predicts distinct functional roles for the A and B type networks. Proc Natl Acad Sci US A. (2019), PMID:30765529.
- 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. Human Molecular Genetics. (2017), PMID: 28973395.
- Rolyan, R, Tyurina, YY, Hernandez, H, Amoscato, AA, Sparvero, LJ, Nmezi, BS, Lu, Y Estécio, MRH, Lin, K, Chen, J, He, R, Gong, R Rigatti, LH, Dupree,J, Bayir, H, Kagan,VE, Casaccia, P, Padiath,QS*. Defects of lipid synthesis underlie the age dependent demyelination caused by lamin B1 over expression. J. Neuroscience. (2015), PMID: 26311780.
- Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, 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. Human Mutation. (2013), PMID:23649844.
- Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nature Genetics.(2006), PMID:16951681.
- Xu Y*, Padiath QS*, Shapiro RE, Jones CR, Wu SC, Saigoh N, Ptacek LJ, Fu YH. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. (2005), PMID:15800623. * Equal Contribution
