A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)-Reference-Cited by-同舟云学术

A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

Published:2016-05-20 Issue:3 Volume:59 Page:376-381
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Ferese Rosangela,Zampatti Stefania,Griguoli Anna Maria Pia,Fornai Francesco,Giardina Emiliano,Barrano Giuseppe,Albano Veronica,Campopiano Rosa,Scala Simona,Novelli Giuseppe,Gambardella Stefano

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-016-0754-3.pdf

Reference31 articles.

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2. Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C (1996) Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15(22):6050–6059

3. Claes S, Aguirre T, Simosa V, Bustos T, Lander R, Piras M, Legius E, Cassiman JJ, Raeymaekers P (1998) Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872 + 1G to a) in the L1CAM gene in a Venezuelan pedigree. Hum Mutat Suppl 1:S240–S241

4. Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ (1994) Identification of a 5′ splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. Hum Mol Genet 3(4):671–673

5. De Angelis E, Watkins A, Schäfer M, Brümmendorf T, Kenwrick S (2002) Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. Hum Mol Genet 11(1):1–12

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