Article
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
American journal of human genetics - 4 Jan 2024
Paul Maimuna S, Michener Sydney L, Pan Hongling, Chan Hiuling, Pfliger Jessica M, Rosenfeld Jill A, Lerma Vanesa C, Tran Alyssa, Longley Megan A, Lewis Richard A, Weisz-Hubshman Monika, Bekheirnia Mir Reza, Bekheirnia Nasim, Massingham Lauren, Zech Michael, Wagner Matias, Engels Hartmut, Cremer Kirsten, Mangold Elisabeth, Peters Sophia, Trautmann Jessica, Mester Jessica L, Guillen Sacoto Maria J, Person Richard, McDonnell Pamela P, Cohen Stacey R, Lusk Laina, Cohen Ana S A, Le Pichon Jean-Baptiste, Pastinen Tomi, Zhou Dihong, Engleman Kendra, Racine Caroline, Faivre Laurence, Moutton Sébastien, Denommé-Pichon Anne-Sophie, Koh Hyun Yong, Poduri Annapurna, Bolton Jeffrey, Knopp Cordula, Julia Suh Dong Sun, Maier Andrea, Toosi Mehran Beiraghi, Karimiani Ehsan Ghayoor, Maroofian Reza, Schaefer Gerald Bradley, Ramakumaran Vijayalakshmi, Vasudevan Pradeep, Prasad Chitra, Osmond Matthew, Schuhmann Sarah, Vasileiou Georgia, Russ-Hall Sophie, Scheffer Ingrid E, Carvill Gemma L, Mefford Heather, Bacino Carlos A, Lee Brendan H, Chao Hsiao-Tuan
Abstract excerpt
PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related...
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