Research & Resources
Current research on ITSN1 gene mutations and their connections to neurodevelopmental disorders, Parkinson's Disease, and dementia
Research Labs
Dhindsa Lab
The Dhindsa Lab at Baylor College of Medicine is actively researching ITSN1 and related genetic conditions. Their work focuses on precision medicine using human genetics, multi-omics, stem cell models, and computational biology.
Overview
While much is yet to be learned about mutations in the ITSN1 gene, research is increasingly showing variants in the ITSN1 gene are linked to neurodevelopmental/autism spectrum disorder, Parkinson's Disease, and dementia.
Gene Function
Understanding the fundamental role of Intersectin1 in cellular processes helps explain how mutations can lead to neurological conditions.
Intersectin1 promotes clathrin-mediated endocytosis by organizing and stabilizing endocytic protein interaction networks
This study explores how Intersectin1 functions in clathrin-mediated endocytosis, a critical cellular process for neurotransmitter recycling and synaptic function.
Read StudyIntersectin 1 is a component of the Reelin pathway to regulate neuronal migration and synaptic plasticity in the hippocampus
Research demonstrating Intersectin 1's role in the Reelin pathway, which is crucial for proper brain development and synaptic function in the hippocampus.
Read StudyVertebrate Intersectin1 Is Repurposed to Facilitate Cortical Midline Connectivity and Higher Order Cognition
This study shows how Intersectin1 facilitates connections in the brain's cortical midline, which is essential for higher-order cognitive functions.
Read StudyNeurodevelopmental/Autism Spectrum Disorder
Multiple studies have identified ITSN1 mutations as a significant factor in neurodevelopmental disorders and autism spectrum conditions.
Intersectin deficiency impairs cortico-striatal neurotransmission and causes obsessive-compulsive behaviors in mice
This study examines how intersectin deficiency affects cortico-striatal neurotransmission and its connection to obsessive-compulsive behaviors in mouse models, providing insights into the neurological mechanisms of ITSN1-related disorders.
Read StudyITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Research identifying ITSN1 as a candidate gene involved in neurodevelopmental disorders, exploring its role in autosomal dominant conditions.
Read StudyFurther evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder
Additional research providing further confirmation of ITSN1's role in autosomal dominant neurodevelopmental disorders, strengthening the evidence base.
Read StudyIntegrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
A large-scale study analyzing over 42,000 autism cases that identified ITSN1 among moderate-risk genes associated with autism spectrum disorder.
Read StudyExome sequencing of 457 autism families recruited online provides evidence for autism risk genes
This study used online recruitment to analyze 457 autism families, providing evidence for ITSN1 as an autism risk gene.
Read StudyTargeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
A comprehensive analysis of over 3,000 Chinese patients with neurodevelopmental disorders that identified ITSN1 among prioritized candidate genes.
Read StudyPhenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients
This study examines the spectrum of variants in guanine nucleotide exchange factor genes, including ITSN1, in a diverse cohort of Iranian patients with neurodevelopmental conditions.
Read StudyParkinson's Disease
Recent research has established a strong link between ITSN1 loss-of-function variants and an increased risk of Parkinson's Disease.
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease
This study demonstrates that loss-of-function variants in ITSN1 significantly increase the risk of developing Parkinson's Disease.
Read StudyHaploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease
Research showing that having only one functional copy of ITSN1 (haploinsufficiency) is associated with a substantially increased risk of Parkinson's Disease.
Read StudyShould ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families
This study presents three novel families with ITSN1 mutations and Parkinson's Disease, making the case for ITSN1 to be considered a Mendelian Parkinson's disease gene.
Read StudyMemory/Dementia/Alzheimer's Disease
Research is exploring connections between ITSN1 and age-related memory decline, dementia, and Alzheimer's Disease.
The Long Isoform of Intersectin-1 Has a Role in Learning and Memory
This study investigates how the long isoform of Intersectin-1 functions in learning and memory processes, providing insights into its role in cognitive function.
Read StudyA clathrin mediated endocytosis scaffolding protein, Intersectin 1, changes in an isoform, brain region, and sex specific manner in Alzheimer's disease
Research examining how Intersectin 1 changes in Alzheimer's Disease, showing variations by isoform, brain region, and sex, which may have implications for understanding disease mechanisms.
Read StudyGenetic variants associated with age-related episodic memory decline implicate distinct memory pathologies
This study identifies genetic variants, including those in ITSN1, associated with age-related episodic memory decline, helping to understand distinct memory pathologies.
Read StudyPatient Stories & Community
Connecting families affected by ITSN1 mutations is an important part of building our community. Below are stories from families navigating this journey.
Hope for the Future: Owen's Story
Owen and his family are working closely with Dr. Dhindsa's lab at Texas Children's Hospital to advance ITSN1 research. This inspiring story from Texas Children's Hospital shares how one family's journey led to a research partnership that is helping to unlock new understanding of ITSN1 mutations and potential treatments.
The story highlights the collaboration between families and researchers, showing how patient-centered research can accelerate discoveries and bring hope for personalized treatments.
Read the Full StoryAdditional Resources
If you know of additional research studies, resources, or information that should be included here, please contact us.