Lab Overview Heading link
Our research focuses on the roles of connexins, or gap junction proteins, in myelinating glia of the central and peripheral nervous systems. Our work utilizes cutting edge techniques in genomics, proteomics, cell biology and electrophysiology, and is yielding exciting insights into a number of human diseases. We have ongoing research projects studying the role of connexins in X-linked Charcot-Marie- Tooth disease (an inherited disease affecting brain and peripheral nerves, Pelizaeus- Merzbacher like disease, PMLD (a devastating brain disease) and Multiple sclerosis. More detailed descriptions of our ongoing research projects are available here. Our work has been funded by grants from the National Institutes of Health, the Muscular Dystrophy Association and the National Multiple Sclerosis Society.
Lab Director Heading link
Publications Heading link
- Abrams C.K., Islam M, Mahmoud R, Kwon T, Bargiello TA, Freidin MM. Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32. (2013) J Biol Chem 288(5):3609-19. PubMed PMID:23209285
- Caramins M., Colebatch J.G., Bainbridge M.N., Scherer S.S., Abrams C.K., Hackett E , Freidin M.M., Jhangiani SN, Wang M, Wu Y, Muzny DM, Lindeman R, Gibbs RA. (2013) Exome sequencing identification of a Gjb1 missense mutation in x-linked Spinocerebellar ataxia (SCA-X1) Hum. Mol. Genet. 22: 4329-38. PMID: 23773993; PMCID: PMC3792691.
- Abrams C.K., Scherer S.S., Flores-Obando R., Freidin M.M., Wong .S., Lamantea E., Farina L., Scaioli V., Pareyson D., Salsano E. A new mutation in GJC2 associated with subclinical leukodystrophy. (2014) J Neurol J Neurol. 261(10):1929-38. doi:10.1007/s00415-014-7429-1. PMID: 25059390; PMCID: PMC4301586.
- Freidin M., Asche-Godin S., Abrams C.K.. Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: Uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves. (2015) Exp Neurol. Jan;263:339-49. doi: 10.1016/j.expneurol. 2014.10.014. Epub 2014 Oct 23. PubMed PMID: 25447941.
- Olympiou M., Sargiannidou I., Markoullis K., Karaiskos C., Kagiava A., Kyriakoudi, S., Abrams C. K., Kleopa K.A. Systemic inflammation disrupts oligodendrocyte gapjunctions and induces ER stress in a model of CNS manifestations of X-linkedCharcot-Marie-Tooth disease. (2016) Acta Neuropathol Commun. 4(1):95. doi:10.1186/s40478-016-0369-5. PubMed PMID: 27585976; PubMed Central PMCID: PMC5009701.
- Abrams, C.K.,. Mikhail Goman M. Sarah Wong S., Scherer S.S., Kleopa K.A., Peinado A., Freidin M.F. Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations. (2017) Sci Rep. Jan 10;7:40166. doi:10.1038/srep40166. PubMed PMID: 28071741.
- Abrams C.K. Diseases of connexins expressed in myelinating glia. Neurosci Lett.2017 May 23. pii: S0304-3940(17)30433-0. doi: 10.1016/j.neulet.2017.05.037. PubMed PMID: 28545922.
Current Research Heading link
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X-linked Charcot-Marie-Tooth disease (an inherited disease affecting brain and peripheral nerves.
Charcot-Marie- Tooth disease is a group of inherited disorders that affect the peripheral nervous system. CMT1X, the X-linked form of Charcot-Marie- Tooth disease, is associated with mutations in connexin 32 (Cx32), a gap junction protein expressed in Schwann cells (SCs) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder. Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.
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Studies of Pelizaeus-Merzbacher like disease, PMLD (a devastating brain disease) and related disorders
Mutations in human CX47 cause either a Charcot-Marie- Tooth disease is a group of inherited disorders that affect the peripheral nervous system. CMT1X, the X-linked form of Charcot-Marie- Tooth disease, is associated with mutations in connexin 32 (Cx32), a gap junction protein expressed in Schwann cells (SCs) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder. Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.
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Connexins in multiple sclerosis.
Charcot-Marie- Tooth disease is a group of inherited disorders that affect the peripheral nervous system. CMT1X, the X-linked form of Charcot-Marie- Tooth disease, is associated with mutations in connexin 32 (Cx32), a gap junction protein expressed in Schwann cells (SCs) and oligodendrocytes, the myelinating cells of the peripheral and central nervous system, respectively. Over the last few years my laboratory has focused on elucidating the mechanisms by which CMTX mutations lead to neural dysfunction. Our hypothesis focuses on mitochondrial dysfunction as a central component in the pathology of this disorder. Current investigations include in vivo studies and ex vivo approaches using genetically altered mice expressing the mutant forms of Cx32 to study mitochondrial function, RNA profiling studies, and proteomic approaches to identify interactions between Cx32 and other proteins.
Our Team Heading link
Lab Personnel
Charles Abrams cabrams1@uic.edu
Post Doctorates
- Dr. Alejandro Peinado PhD
- Dr. Mona Freidin PhD
Graduate Students
- Samantha Keil PhD Student
Undergraduate Students
- Ria Parikh
- Cissy Xiao
Technicians
- Gabriel Dungan
- Anna Liu