Výsledky vyhledávání - "Katrin Adlkofer"

Aberrant Protein Trafficking inTremblerSuggests a Disease Mechanism for Hereditary Human Peripheral Neuropathies

Autor: Katrin Adlkofer, Roland Naef, Birgit Lescher, Ueli Suter

Publikováno v: Molecular and Cellular Neuroscience. 9:13-25

The naturally occurring mouse mutantTrembler(Tr) represents an animal model for inherited human neuropathies caused by point mutations affecting peripheral myelin protein 22 (PMP22). We describe the likely pathogenic cellular mechanism underlying the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cd4a78e2edf7cac5af4f628760c707a
https://doi.org/10.1006/mcne.1997.0604

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Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene

Autor: Ueli Suter, Katrin Adlkofer, Kenneth Ricker, Klaus V. Toyka, Jürgen Zielasek

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 63(6)

EMG recordings from a 14 month old mouse homozygously deficient for the expression of the peripheral myelin protein PMP22. The mouse was anaesthetised with Hypnorm (Janssen, Beerse, Belgium) and investigated using a Tonnies electromyograph with a con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf868894b4e66485043e358a07cbab
https://pubmed.ncbi.nlm.nih.gov/9416828

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Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele

Autor: Katrin Adlkofer, Ueli Suter, Roland Naef

Publikováno v: Journal of neuroscience research. 49(6)

The most common form of Charcot-Marie-Tooth disease, CMT1A, is correlated with a 1.5 megabase duplication on chromosome 17p.11.2 containing the peripheral myelin protein 22 (PMP22) gene. Deletion of the same region is associated with a second inherit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37150312b1570bda511eb979fa46fed4
https://pubmed.ncbi.nlm.nih.gov/9335255

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Impaired Differentiation of Schwann Cells in Transgenic Mice with Increased PMP22 Gene Dosage

Autor: Ueli Suter, Zlatko Dembic, Rudolf Martini, Jürgen Zielasek, Klaus V. Toyka, Josef P. Magyar, Katrin Adlkofer, Adriano Aguzzi, Thomas Ruelicke

Publikováno v: Scopus-Elsevier
Europe PubMed Central

An intrachromosomal duplication containing thePMP22gene is associated with the human hereditary peripheral neuropathy Charcot-Marie-Tooth disease type 1A, and PMP22 overexpression as a consequence of increasedPMP22gene dosage has been suggested as ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e60f8ce13868c1fb928c65506f5c713
https://europepmc.org/articles/PMC6578876/

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Dramatic changes in the ratio of homologous recombination to nonhomologous DNA-end joining in oocytes and early embryos of Xenopus laevis

Autor: Duri Rungger, Walter Schaffner, Petra Pfeiffer, Rémy Bruggmann, Katrin Adlkofer, Michael Hagmann, Oleg Georgiev

Publikováno v: Biological Chemistry, Vol. 377, No 4 (1996) pp. 239-50

We have developed a versatile plasmid vector (pReco-sigma) for recombination studies. When linearized and introduced into the cells of interest, pReco-sigma allows the simultaneous determination of the relative frequencies of homologous recombination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79934df0463aaa7ef08ad81c8830ea80
https://archive-ouverte.unige.ch/unige:81802

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Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

Autor: Ueli Suter, Jürgen Zielasek, Katrin Adlkofer, Adriano Aguzzi, Rudolf Martini, Klaus V. Toyka

Publikováno v: Scopus-Elsevier

Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies such as Charcot-Marie-Tooth disease type 1A. We now demon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882dcf1963dfa09b47a102b30c630568
https://pubmed.ncbi.nlm.nih.gov/7581450

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Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

Autor: Regula Frei, Jürgen Zielasek, Ueli Suter, Dirk H.-H. Neuberg, Katrin Adlkofer, Klaus V. Toyka

Publikováno v: Scopus-Elsevier

Hereditary neuropathy with liability to pressure palsy (HNPP) is associated with a heterozygous 1.5 megabase deletion on chromosome 17 that includes the peripheral myelin protein (PMP) genePMP22. We show that heterozygous PMP22 knock-out mice, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c266fb2b39bc9845f41b131ed48b10e9
http://www.scopus.com/inward/record.url?eid=2-s2.0-0030994297&partnerID=MN8TOARS

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