List of works - Steven S. Scherer

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

scientific article

The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

scientific article

KCNQ2 is a nodal K+ channel.

scientific article published in February 2004

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

scientific article

Connexins are critical for normal myelination in the CNS.

scientific article

Notch1 control of oligodendrocyte differentiation in the spinal cord

scientific journal article

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

scientific article

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

scientific article published in December 2007

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

scientific article

Gap junctions couple astrocytes and oligodendrocytes

scientific article

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

scientific article published in January 2007

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

scientific article

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

scientific article

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

scientific article

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

scientific article published on 01 October 2006

Molecular mechanisms of inherited demyelinating neuropathies

scientific article published on November 2008

Recent progress on the molecular organization of myelinated axons

scientific article

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

scientific article published in February 2006

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

scientific article

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

scientific article

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

scientific article published on October 2005

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

scientific article

Kv3.1b is a novel component of CNS nodes

scientific journal article

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

scientific article

Genetic dysmyelination alters the molecular architecture of the nodal region

article

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

scientific article

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

scientific article published on April 2008

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

scientific article

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

scientific article published on 01 October 2002

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

scientific article

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

scientific article published in February 2005

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

scientific article published on December 2009

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

scientific article published on 01 November 2004

Recurrent duplication-driven transposition of DNA during hominoid evolution

scholarly article

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

scientific article published on 4 December 2017

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

scientific article published on 11 February 2015

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

scientific article published on 01 February 2005

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

scientific article

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

scientific article published in February 2006

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers

scientific article published on June 15, 2012

X-linked Charcot-Marie-Tooth disease

scientific article published on December 2012

The effects of a dominant connexin32 mutant in myelinating Schwann cells

scientific article published on 21 June 2006

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

scientific article published on 21 January 2010

Kv7.2 regulates the function of peripheral sensory neurons

scientific article published on 12 April 2014

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

scientific article published in August 2005

Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A

scientific article published on 01 February 2002

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

scientific article

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve

scientific journal article

List of works by Steven S. Scherer

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

The DNA sequence of the human X chromosome

A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon

KCNQ2 is a nodal K+ channel.

Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia

Connexins are critical for normal myelination in the CNS.

Notch1 control of oligodendrocyte differentiation in the spinal cord

Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

Gap junctions couple astrocytes and oligodendrocytes

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

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

Molecular mechanisms of inherited demyelinating neuropathies

Recent progress on the molecular organization of myelinated axons

ErbB2 signaling in Schwann cells is mostly dispensable for maintenance of myelinated peripheral nerves and proliferation of adult Schwann cells after injury.

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations

Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier.

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

Kv3.1b is a novel component of CNS nodes

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

Genetic dysmyelination alters the molecular architecture of the nodal region

Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling

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

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

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

Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

Acute demyelination disrupts the molecular organization of peripheral nervous system nodes

Recurrent duplication-driven transposition of DNA during hominoid evolution

PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

Kv7.5 is the primary Kv7 subunit expressed in C‐fibers

X-linked Charcot-Marie-Tooth disease

The effects of a dominant connexin32 mutant in myelinating Schwann cells

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

Kv7.2 regulates the function of peripheral sensory neurons

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

Proliferation of Schwann cells and regulation of cyclin D1 expression in an animal model of Charcot-Marie-Tooth disease type 1A

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

Identification of genes that are downregulated in the absence of the POU domain transcription factor pou3f1 (Oct-6, Tst-1, SCIP) in sciatic nerve