Stephen F. Pastore

Toronto, ON M5G0A4, Canada

Last Updated: 09/26/2026

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Found 19 publications

Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.

Restoring the Balance: CRISPRa-Driven β-Tubulin Compensation as a Strategy for Tubulinopathy Treatment.

Journal: International journal of molecular sciences
Published: June 25, 2026

Bridging the gap: an emerging link between tubulinopathies and ciliopathies.

Bridging the gap: an emerging link between tubulinopathies and ciliopathies.

Journal: NPJ genomic medicine
Published: November 18, 2025

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.

Journal: Scientific reports
Published: June 12, 2025

Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.

Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.

Journal: Molecular psychiatry
Published: May 31, 2025

Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.

Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking.

Journal: Biological psychiatry global open science
Published: December 13, 2024

Computational screening of antiviral candidates for Monkeypox virus DNA polymerase and A42R protein.

Computational screening of antiviral candidates for Monkeypox virus DNA polymerase and A42R protein.

Journal: PLoS neglected tropical diseases
Published: September 26, 2024

The role of amylin, a gut-brain axis hormone, in metabolic and neurological disorders.

The role of amylin, a gut-brain axis hormone, in metabolic and neurological disorders.

Journal: FASEB bioAdvances
Published: September 10, 2024

Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.

Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.

Journal: Cells
Published: December 07, 2023

Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders.

Chromatin gatekeeper and modifier CHD proteins in development, and in autism and other neurological disorders.

Journal: Psychiatric genetics
Published: October 18, 2023

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.

Neuronal transcription of autism gene PTCHD1 is regulated by a conserved downstream enhancer sequence.

Journal: Scientific reports
Published: September 04, 2023

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.

Journal: Genes
Published: February 01, 2022

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14.

Journal: Scientific reports
Published: March 11, 2021
Showing 1-12 of 19

Last Updated: 09/26/2026