Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome-Reference-Cited by-同舟云学术

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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome

Published:2024-10 Issue:4 Volume:5 Page:100327
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Smits Daphne J.^ORCID,Dekker Jordy,Douben Hannie,Schot Rachel,Magee Helen,Bakhtiari Somayeh,Koehler Katrin,Huebner Angela,Schuelke Markus,Darvish Hossein,Vosoogh Shohreh,Tafakhori Abbas,Jameie Melika,Taghiabadi Ehsan,Wilson Yana,Shah Margit,van Slegtenhorst Marjon A.,Medici-van den Herik Evita G.,van Ham Tjakko J.,Kruer Michael C.,Mancini Grazia M.S.

Funder

ZonMw

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Reference53 articles.

1. Structure and Assembly of the Nuclear Pore Complex;Hampoelz;Annu. Rev. Biophys.,2019

2. Nucleocytoplasmic Transport of RNAs and RNA-Protein Complexes;Sloan;J. Mol. Biol.,2016

3. Nuclear pore proteins and the control of genome functions;Ibarra;Genes Dev.,2015

4. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities;Muir;Am. J. Hum. Genet.,2020

5. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome;Braun;J. Clin. Invest.,2018

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