Article

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of <i>NPHP1</i> ciliopathy-gene transcripts

2024-04-22

Abstract excerpt

Ciliopathies are a class of multi-systemic genetic diseases characterized by ciliary dysfunction. Here, we report a novel ANKS3 variant in patients with a renal ciliopathy known as nephronophthisis (NPH) associated with hepatic defects. ANKS3 is an ankyrin and sterile alpha motif domain-containing protein that interacts with many NPH proteins as well as with BICC1, an RNA-binding protein involved in renal cystic...

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Literature Corpus work: 1ae97b5b-053e-5988-a4aa-8480dd1edcd9
DOI: 10.1101/2024.04.18.588747

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