Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GJB1: 842C>A; Ser281Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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What's the Function of Connexin 32 in the Peripheral Nervous System?

Frontiers In Molecular Neuroscience

Bortolozzi, Mario M

Publication Date: 2018

Variant appearance in text: GJB1: S281X

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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

Brain Research

Kleopa, Kleopas A KA; Abrams, Charles K CK; Scherer, Steven S SS

Publication Date: 2012-12-03

Variant appearance in text: GJB1: S281x

PubMed Link: 22771394

Variant Present in the following documents:

• Main text

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Characterization of the structure and intermolecular interactions between the connexin 32 carboxyl-terminal domain and the protein partners synapse-associated protein 97 and calmodulin.

The Journal Of Biological Chemistry

Stauch, Kelly K; Kieken, Fabien F; Sorgen, Paul P

Publication Date: 2012-08-10

Variant appearance in text: CMTX: S281x

PubMed Link: 22718765

Variant Present in the following documents:

• Main text

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The role of gap junctions in Charcot-Marie-Tooth disease.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Kleopa, Kleopas A KA

Publication Date: 2011-12-07

Variant appearance in text: GJB1: S281X

PubMed Link: 22159091

Variant Present in the following documents:

• Main text

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

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Sargiannidou, Irene I; Vavlitou, Natalie N; Aristodemou, Sophia S; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K; Scherer, Steven S SS; Kleopa, Kleopas A KA

Publication Date: 2009-04-15

Variant appearance in text: GJB1: S281x

PubMed Link: 19369543

Variant Present in the following documents:

• Main text

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Molecular mechanisms of inherited demyelinating neuropathies.

Glia

Scherer, Steven S SS; Wrabetz, Lawrence L

Publication Date: 2008-11-01

Variant appearance in text: GJB1: S281X

PubMed Link: 18803325

Variant Present in the following documents:

• Main text

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

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Huang, Yan Y; Sirkowski, Erich E EE; Stickney, John T JT; Scherer, Steven S SS

Publication Date: 2005-08-03

Variant appearance in text: GJB1: S281x

PubMed Link: 16079393

Variant Present in the following documents:

• Main text

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