STOP Codon Mutations at Sites of Natural Caspase Cleavage Are Implicated in Autism and Alzheimer's Disease: The Case of ADNP

Front Endocrinol (Lausanne). 2022 Mar 23:13:867442. doi: 10.3389/fendo.2022.867442. eCollection 2022.

Authors

Illana Gozes¹, Shula Shazman²

Affiliations

¹ Elton Laboratory for Molecular Neuroendocrinology, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Adams Super Center for Brain Studies and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
² Department of Mathematics and Computer Science, The Open University of Israel, Raanana, Israel.

No abstract available

Keywords: Alzheimer’s disease; activity dependent neuroprotective protein (ADNP); apoptosis; autism spectrum disorder; caspase; mutations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alzheimer Disease* / genetics
Autistic Disorder* / genetics
Caspases / genetics
Codon, Terminator
Homeodomain Proteins / genetics
Humans
Mutation
Nerve Tissue Proteins / genetics

Substances

ADNP protein, human
Codon, Terminator
Homeodomain Proteins
Nerve Tissue Proteins
Caspases