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

doi:10.1016/j.xhgg.2024.100327

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Article

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

HGG advances - 10 Oct 2024

Smits Daphne J, 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

Abstract excerpt

Nuclear pore complexes (NPCs) regulate nucleocytoplasmic transport and are anchored in the nuclear envelope by the transmembrane nucleoporin NDC1. NDC1 is essential for post-mitotic NPC assembly and the recruitment of ALADIN to the nuclear envelope. While no human disorder has been associated to one of the three transmembrane nucleoporins, biallelic variants in AAAS, encoding ALADIN, cause triple A syndrome...

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PMID: 39003500
DOI: 10.1016/j.xhgg.2024.100327
PMCID: PMC11375137

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