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Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy

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Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. / Schulz, Alexander; Baader, Stephan L; Niwa-Kawakita, Michiko; Jung, Marie Juliane; Bauer, Reinhard; Garcia, Cynthia; Zoch, Ansgar; Schacke, Stephan; Hagel, Christian; Mautner, Victor-Felix; Hanemann, C Oliver; Dun, Xin-Peng; Parkinson, David B; Weis, Joachim; Schröder, J Michael; Gutmann, David H; Giovannini, Marco; Morrison, Helen.

in: NAT NEUROSCI, Jahrgang 16, Nr. 4, 01.04.2013, S. 426-33.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Schulz, A, Baader, SL, Niwa-Kawakita, M, Jung, MJ, Bauer, R, Garcia, C, Zoch, A, Schacke, S, Hagel, C, Mautner, V-F, Hanemann, CO, Dun, X-P, Parkinson, DB, Weis, J, Schröder, JM, Gutmann, DH, Giovannini, M & Morrison, H 2013, 'Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy', NAT NEUROSCI, Jg. 16, Nr. 4, S. 426-33. https://doi.org/10.1038/nn.3348

APA

Schulz, A., Baader, S. L., Niwa-Kawakita, M., Jung, M. J., Bauer, R., Garcia, C., Zoch, A., Schacke, S., Hagel, C., Mautner, V-F., Hanemann, C. O., Dun, X-P., Parkinson, D. B., Weis, J., Schröder, J. M., Gutmann, D. H., Giovannini, M., & Morrison, H. (2013). Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. NAT NEUROSCI, 16(4), 426-33. https://doi.org/10.1038/nn.3348

Vancouver

Schulz A, Baader SL, Niwa-Kawakita M, Jung MJ, Bauer R, Garcia C et al. Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. NAT NEUROSCI. 2013 Apr 1;16(4):426-33. https://doi.org/10.1038/nn.3348

Bibtex

@article{542a26362eb04650bb03e9c25b503f43,
title = "Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy",
abstract = "The autosomal dominant disorder neurofibromatosis type 2 (NF2) is a hereditary tumor syndrome caused by inactivation of the NF2 tumor suppressor gene, encoding merlin. Apart from tumors affecting the peripheral and central nervous systems, most NF2 patients develop peripheral neuropathies. This peripheral nerve disease can occur in the absence of nerve-damaging tumors, suggesting an etiology that is independent of gross tumor burden. We discovered that merlin isoform 2 (merlin-iso2) has a specific function in maintaining axonal integrity and propose that reduced axonal NF2 gene dosage leads to NF2-associated polyneuropathy. We identified a merlin-iso2-dependent complex that promotes activation of the GTPase RhoA, enabling downstream Rho-associated kinase to promote neurofilament heavy chain phosphorylation. Merlin-iso2-deficient mice exhibited impaired locomotor capacities, delayed sensory reactions and electrophysiological signs of axonal neuropathy. Sciatic nerves from these mice and sural nerve biopsies from NF2 patients revealed reduced phosphorylation of the neurofilament H subunit, decreased interfilament spacings and irregularly shaped axons.",
keywords = "Adult, Amino Acid Sequence, Animals, Animals, Newborn, Cell Line, Tumor, Cells, Cultured, Female, Ganglia, Spinal, HEK293 Cells, Humans, Male, Mice, Mice, Inbred C57BL, Mice, Knockout, Middle Aged, Molecular Sequence Data, Neurofibromatosis 2, Neurofibromin 2, Phosphorylation, Polyneuropathies, Pregnancy, Protein Isoforms",
author = "Alexander Schulz and Baader, {Stephan L} and Michiko Niwa-Kawakita and Jung, {Marie Juliane} and Reinhard Bauer and Cynthia Garcia and Ansgar Zoch and Stephan Schacke and Christian Hagel and Victor-Felix Mautner and Hanemann, {C Oliver} and Xin-Peng Dun and Parkinson, {David B} and Joachim Weis and Schr{\"o}der, {J Michael} and Gutmann, {David H} and Marco Giovannini and Helen Morrison",
year = "2013",
month = apr,
day = "1",
doi = "10.1038/nn.3348",
language = "English",
volume = "16",
pages = "426--33",
journal = "NAT NEUROSCI",
issn = "1097-6256",
publisher = "NATURE PUBLISHING GROUP",
number = "4",

}

RIS

TY - JOUR

T1 - Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy

AU - Schulz, Alexander

AU - Baader, Stephan L

AU - Niwa-Kawakita, Michiko

AU - Jung, Marie Juliane

AU - Bauer, Reinhard

AU - Garcia, Cynthia

AU - Zoch, Ansgar

AU - Schacke, Stephan

AU - Hagel, Christian

AU - Mautner, Victor-Felix

AU - Hanemann, C Oliver

AU - Dun, Xin-Peng

AU - Parkinson, David B

AU - Weis, Joachim

AU - Schröder, J Michael

AU - Gutmann, David H

AU - Giovannini, Marco

AU - Morrison, Helen

PY - 2013/4/1

Y1 - 2013/4/1

N2 - The autosomal dominant disorder neurofibromatosis type 2 (NF2) is a hereditary tumor syndrome caused by inactivation of the NF2 tumor suppressor gene, encoding merlin. Apart from tumors affecting the peripheral and central nervous systems, most NF2 patients develop peripheral neuropathies. This peripheral nerve disease can occur in the absence of nerve-damaging tumors, suggesting an etiology that is independent of gross tumor burden. We discovered that merlin isoform 2 (merlin-iso2) has a specific function in maintaining axonal integrity and propose that reduced axonal NF2 gene dosage leads to NF2-associated polyneuropathy. We identified a merlin-iso2-dependent complex that promotes activation of the GTPase RhoA, enabling downstream Rho-associated kinase to promote neurofilament heavy chain phosphorylation. Merlin-iso2-deficient mice exhibited impaired locomotor capacities, delayed sensory reactions and electrophysiological signs of axonal neuropathy. Sciatic nerves from these mice and sural nerve biopsies from NF2 patients revealed reduced phosphorylation of the neurofilament H subunit, decreased interfilament spacings and irregularly shaped axons.

AB - The autosomal dominant disorder neurofibromatosis type 2 (NF2) is a hereditary tumor syndrome caused by inactivation of the NF2 tumor suppressor gene, encoding merlin. Apart from tumors affecting the peripheral and central nervous systems, most NF2 patients develop peripheral neuropathies. This peripheral nerve disease can occur in the absence of nerve-damaging tumors, suggesting an etiology that is independent of gross tumor burden. We discovered that merlin isoform 2 (merlin-iso2) has a specific function in maintaining axonal integrity and propose that reduced axonal NF2 gene dosage leads to NF2-associated polyneuropathy. We identified a merlin-iso2-dependent complex that promotes activation of the GTPase RhoA, enabling downstream Rho-associated kinase to promote neurofilament heavy chain phosphorylation. Merlin-iso2-deficient mice exhibited impaired locomotor capacities, delayed sensory reactions and electrophysiological signs of axonal neuropathy. Sciatic nerves from these mice and sural nerve biopsies from NF2 patients revealed reduced phosphorylation of the neurofilament H subunit, decreased interfilament spacings and irregularly shaped axons.

KW - Adult

KW - Amino Acid Sequence

KW - Animals

KW - Animals, Newborn

KW - Cell Line, Tumor

KW - Cells, Cultured

KW - Female

KW - Ganglia, Spinal

KW - HEK293 Cells

KW - Humans

KW - Male

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Knockout

KW - Middle Aged

KW - Molecular Sequence Data

KW - Neurofibromatosis 2

KW - Neurofibromin 2

KW - Phosphorylation

KW - Polyneuropathies

KW - Pregnancy

KW - Protein Isoforms

U2 - 10.1038/nn.3348

DO - 10.1038/nn.3348

M3 - SCORING: Journal article

C2 - 23455610

VL - 16

SP - 426

EP - 433

JO - NAT NEUROSCI

JF - NAT NEUROSCI

SN - 1097-6256

IS - 4

ER -