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PIARD J.

Last name: PIARD J.

2018 (v1)

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Reply: ATAD1 encephalopathy and stiff baby syndrome: A recognizable clinical presentation

Piard J. Essien Umanah G. K. Harms F. L.

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Uploaded on: April 14, 2023
2018 (v1)

Publication

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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Piard J. Umanah G. K. E. Harms F. L.

Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the...

Uploaded on: April 14, 2023
2022 (v1)

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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão E. Schröder C. Parenti I.

Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher proportion of disorder-associated genes and an enrichment of genes involved in cognition, language, and seizures on chrX compared to autosomes. We analyze gene...

Uploaded on: January 31, 2024