Publications:

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Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences

Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y

Publication Date: 2022-04-12

Variant appearance in text: GJB1: Asn175Asp

PubMed Link: 35457072

Variant Present in the following documents:

• Main text
• ijms-23-04255.pdf

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Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.

International Journal Of Molecular Sciences

Stavrou, Marina M; Sargiannidou, Irene I; Georgiou, Elena E; Kagiava, Alexia A; Kleopa, Kleopas A KA

Publication Date: 2021-06-03

Variant appearance in text: GJB1: N175D

PubMed Link: 34205075

Variant Present in the following documents:

• Main text
• ijms-22-06048.pdf

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AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.

Gene Therapy

Kagiava, Alexia A; Karaiskos, Christos C; Richter, Jan J; Tryfonos, Christina C; Jennings, Matthew J MJ; Heslegrave, Amanda J AJ; Sargiannidou, Irene I; Stavrou, Marina M; Zetterberg, Henrik H; Reilly, Mary M MM; Christodoulou, Christina C; Horvath, Rita R; Kleopa, Kleopas A KA

Publication Date: 2021-11

Variant appearance in text: GJB1: N175D

PubMed Link: 33692503

Variant Present in the following documents:

• Main text
• 41434_2021_Article_250.pdf

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AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.

Gene Therapy

Kagiava, Alexia A; Karaiskos, Christos C; Richter, Jan J; Tryfonos, Christina C; Jennings, Matthew J MJ; Heslegrave, Amanda J AJ; Sargiannidou, Irene I; Stavrou, Marina M; Zetterberg, Henrik H; Reilly, Mary M MM; Christodoulou, Christina C; Horvath, Rita R; Kleopa, Kleopas A KA

Publication Date: 2021-11

Variant appearance in text: GJB1: N175D

PubMed Link: 33692503

Variant Present in the following documents:

• Main text
• 41434_2021_Article_250.pdf

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The role of oligodendrocyte gap junctions in neuroinflammation.

Channels (Austin, Tex.)

Papaneophytou, Christos C; Georgiou, Elena E; Kleopa, Kleopas A KA

Publication Date: 2019-12

Variant appearance in text: GJB1: N175D

PubMed Link: 31232168

Variant Present in the following documents:

• Main text
• kchl-13-01-1631107.pdf

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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: N175D

PubMed Link: 30042657

Variant Present in the following documents:

• Main text
• fnmol-11-00227.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: GJB1: N175D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GJB1: N175D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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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: N175D

PubMed Link: 16079393

Variant Present in the following documents:

• Main text

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