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Bio
We study the molecular structure and function of gap junctions, collec- tions of intercellular channels that allow the direct movement of small molecules between cells. These channels provide the electrical connections essential for the transmission of signals between many neurons as well as other excitable and non-excitable cells. Communication through gap junctions can also influence a diverse range of cellular behavior, including proliferation and differentiation. Over the last few years, we have cloned a family of genes, the connexins, that encode the components of intercellular channels. Recently we discovered that a hereditary dis-order, X-linked Charcot-Marie-Tooth (CMTX) disease, is associated with specific mutations in a connexin called Cx32. CMTX is an extremely common familial neuropathy characterized by slow, progressive motor and sensory loss. It mainly affects the peripheral nervous system, causing demyelination and slowing of nerve conduction velocities. We have shown that Schwann cells, which produce the myelin, make Cx32 and localize it to membranes near the nodes of Ranvier and at Schmitt-Lantermann incisures.
Research Interests
Papers共 491 篇Author StatisticsCo-AuthorSimilar Experts
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MEDICAL EDUCATIONno. 1 (2024): 149-156
JAMA pediatricsno. 6 (2024): 525-532
Thrombosis Research (2024): 23-30
Abigail Ballard-Kordeliski,Robert H Lee, Ellen Clelia O'Shaughnessy,Paul Y Kim, Summer R Jones,Rafal Pawlinski,Matthew J Flick,David S Paul,Nigel Mackman,David Adalsteinsson,Wolfgang Bergmeier
Blood (2024)
BLOODno. 2 (2024): 105-117
Christina Hartwig,Jan Müller, Hagen Klett,Dina Kouhestani,Anke Mittelstädt,Anna Anthuber,Paul David,Maximilian Brunner,Anne Jacobsen, Karolina Glanz,Izabela Swierzy,Lotta Roßdeutsch,
The New England journal of medicineno. 25 (2023): 2326-2337
BLOOD (2023): 2572
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