C. Abrams

发表

Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32*

T. Kwon, T. Bargiello, C. Abrams, 2012, The Journal of Biological Chemistry.

Human oligodendrocytes express Cx31.3: Function and interactions with Cx32 mutants

R. Reynolds, A. Peinado, S. Scherer, 2008, Neurobiology of Disease.

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

P. Haydon, J. Sul, D. Paul, 2008, Journal of Neuroscience Research.

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus–Merzbacher-like disease

S. Scherer, C. Abrams, Alan D. Enriquez, 2007, Molecular and Cellular Neuroscience.

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

S. Scherer, Yan Huang, J. Grinspan, 2007, Glia.

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.

M. Bennett, V. Verselis, T. Bargiello, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Connexin 32 increases the proliferative response of Schwann cells to neuregulin-1 (Nrg1)

M. Bennett, T. Bargiello, C. Abrams, 2009, Proceedings of the National Academy of Sciences.

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot–Marie–Tooth disease

T. Bargiello, C. Abrams, Seunghoon Oh, 2000, Brain Research Reviews.

Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin 32.

Priscilla E. M. Purnick, P. E. Purnick, T. Bargiello, 2000, Biophysical journal.

Stoichiometry of Transjunctional Voltage–Gating Polarity Reversal by a Negative Charge Substitution in the Amino Terminus of a Connexin32 Chimera

V. Verselis, T. Bargiello, C. Abrams, 2000, The Journal of general physiology.

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.

D. Kelsell, M. Bennett, G. Richard, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Sarah Wong, A. Peinado, M. Goman, 2017, Scientific Reports.

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

M. Bennett, V. Verselis, T. Bargiello, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32

E. Hertzberg, J. Bulinski, C. Abrams, 2018, BMC Cell Biology.

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease

M. Bennett, V. Verselis, T. Bargiello, 2001, Brain Research.

Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

I. Sargiannidou, K. Kleopa, C. Karaiskos, 2018, Glia.

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Miguel A. Soler, Miguel A Soler, P. Striano, 2022, Orphanet Journal of Rare Diseases.

Diseases of connexins expressed in myelinating glia

C. Abrams, 2017, Neuroscience Letters.

GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

C. Abrams, M. Freidin, 2015, Cell and Tissue Research.

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

S. Scherer, K. Kleopa, C. Abrams, 2012, Brain Research.

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease

I. Sargiannidou, K. Kleopa, A. Kagiava, 2016, Acta neuropathologica communications.

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

C. Abrams, M. Freidin, Samantha L Asche-Godin, 2015, Experimental Neurology.

Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease

A. I. Hernández, C. Abrams, M. Freidin, 2022, Molecular and Cellular Neuroscience.

MUTATIONS IN CONNEXIN 32: THE MOLECULAR AND BIOPHYSICAL BASES FOR THE X‐LINKED FORM OF CHARCOT‐MARIE‐TOOTH DISEASE

T. Bargiello, C. Abrams, Seunghoon Oh, 2000 .

GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

C. Abrams, M. Freidin, 2015, Cell and Tissue Research.

A T. cruzi-secreted protein immunologically related to the complement component C9: Evidence for membrane pore-forming activity at low pH

G. Griffiths, S. Slatin, N. Andrews, 1990, Cell.

Voltage-Dependent Gating of Colicin E1 Channels in Planar Bilayers

A. Finkelstein, S. Slatin, K. Jakes, 1992 .

Patterns of Spontaneous Local Network Activity in Developing Cerebral Cortex: Relationship to Adult Cognitive Function

A. Peinado, C. Abrams, 2015, PloS one.

Gap junctions in inherited human disorders of the central nervous system.

S. Scherer, C. Abrams, 2012, Biochimica et biophysica acta.

Gap Junctions Couple Astrocytes and Oligodendrocytes

S. Scherer, C. Abrams, Jennifer L. Orthmann-Murphy, 2008, Journal of Molecular Neuroscience.

Delta-endotoxins form cation-selective channels in planar lipid bilayers.

S. Slatin, L. English, C. Abrams, 1990, Biochemical and biophysical research communications.

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

R. Gibbs, D. Muzny, S. Jhangiani, 2013, Human molecular genetics.

Two Distinct Heterotypic Channels Mediate Gap Junction Coupling between Astrocyte and Oligodendrocyte Connexins

S. Scherer, C. Abrams, M. Freidin, 2007, The Journal of Neuroscience.

A new mutation in GJC2 associated with subclinical leukodystrophy

Sarah Wong, E. Lamantea, V. Scaioli, 2014, Journal of Neurology.

Connexins in the Nervous System

J. Rash, C. Abrams, 2009 .

Chapter 15 Connexins in the Nervous System

J. Rash, C. Abrams, 2008 .

Effects of early crush on aging wild type and Connexin 32 knockout mice: Evidence for a neuroprotective state in CMT1X mouse nerve

A. Peinado, C. Abrams, M. Freidin, 2021, Journal of the peripheral nervous system : JPNS.

Acute demyelinating neuropathy in a patient with neurolymphomatosis

C. Abrams, Rola A Mahmoud, 2018, BMJ Case Reports.

Connexin Mutations in Pelizaeus–Merzbacher-Like Disease, Oculodentodigital Dysplasia and Related Diseases

C. Abrams, Jennifer L. Orthmann-Murphy, 2013 .

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

Hereditary spastic paraplegia is a novel phenotype for GJA 12 / GJC 2 mutations

A. Bizzi, M. Zeviani, E. Lamantea, 2009 .

Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease.

R. Dobrowsky, Xinyu Zhang, C. Abrams, 2023, ACS pharmacology & translational science.

AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1

J. Mendell, Z. Sahenk, C. Abrams, 2021, Gene Therapy.

Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

Wesley M. Botello-Smith, A. Peinado, Han Zhang, 2018, American journal of physiology. Cell physiology.

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47

C. Abrams, 2023, Biomolecules.

Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild‐type forms of Cx47 do not contribute to or modulate gap junction function

C. Abrams, M. Freidin, R. Flores-Obando, 2021, Glia.

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease

I. Sargiannidou, K. Kleopa, A. Kagiava, 2016, Acta neuropathologica communications.

GJB1 Disorders: Charcot Marie Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes

C. Abrams, 1993 .

Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32

M. Bennett, V. Verselis, F. Bukauskas, 2003, The Journal of Neuroscience.

Chapter 20: Hereditary Human Diseases Caused by Connexin Mutations

M. Bennett, C. Abrams, 1999 .

Identification of a translocated gating charge in a voltage-dependent channel. Colicin E1 channels in planar phospholipid bilayer membranes

A. Finkelstein, S. Slatin, K. Jakes, 1991, The Journal of general physiology.

Rapid and Specific Immunomagnetic Isolation of Mouse Primary Oligodendrocytes.

C. Abrams, M. Freidin, R. Flores-Obando, 2018, Journal of visualized experiments : JoVE.

Alteration of the pH-dependent ion selectivity of the colicin E1 channel by site-directed mutagenesis.

A. Finkelstein, S. Slatin, K. Jakes, 1990, Journal of Biological Chemistry.

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions.

J. Ballesteros, H. Weinstein, T. Bargiello, 1999, Biophysical journal.

A dominant connexin43 mutant does not have dominant effects on gap junction coupling in astrocytes.

S. Scherer, C. Abrams, Sameh K. Wasseff, 2010, Neuron glia biology.

Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system

S. Scherer, Jian J. Li, C. Abrams, 2022, Experimental Neurology.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.