Phenotypic complexities of rare heterozygous neurexin-1 deletions www.nature.com/articles/s41... NRXN1 mutations are strongly associated with schizophrenia, autism, epilepsy, intellectual disability, and Tourette syndrome. This study dissects how different mutations affect neuronal circuits
Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature
How NRXN1 variants affect multiple neuropsychiatric disorders is explored.
www.nature.com
June 20, 2025 at 10:30 AM
Phenotypic complexities of rare heterozygous neurexin-1 deletions www.nature.com/articles/s41... NRXN1 mutations are strongly associated with schizophrenia, autism, epilepsy, intellectual disability, and Tourette syndrome. This study dissects how different mutations affect neuronal circuits
Expression of human NRXN1 isoforms in C. elegans neurons revealed gain-of-function of schizophrenia-associated 3′ deletions! Work by Dustin Haskell (now @lawrenceuni.bsky.social), and with immense thanks to @kristenbrennand.bsky.social! academic.oup.com/hmg/article/...
In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3′ deletions
Abstract. Heterozygous deletions in NRXN1, encoding the presynaptic adhesion molecule Neurexin 1, are among the most frequently identified rare variants in
academic.oup.com
September 10, 2026 at 7:19 PM
Expression of human NRXN1 isoforms in C. elegans neurons revealed gain-of-function of schizophrenia-associated 3′ deletions! Work by Dustin Haskell (now @lawrenceuni.bsky.social), and with immense thanks to @kristenbrennand.bsky.social! academic.oup.com/hmg/article/...
Nature research paper: Phenotypic complexities of rare heterozygous neurexin-1 deletions
https://go.nature.com/3GebfT7
https://go.nature.com/3GebfT7
Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature
How NRXN1 variants affect multiple neuropsychiatric disorders is explored.
go.nature.com
April 15, 2025 at 2:24 PM
Nature research paper: Phenotypic complexities of rare heterozygous neurexin-1 deletions
https://go.nature.com/3GebfT7
https://go.nature.com/3GebfT7
Leaving lab for a week to spend the holidays with friends and family. Here is a holiday gfap(+) astrocyte decorated with Kir4.1, astrocytic Nrxn1, and vGluT2. Much to celebrate and be grateful 9 months into having a lab filled with some talented folks.
December 20, 2024 at 3:53 AM
Leaving lab for a week to spend the holidays with friends and family. Here is a holiday gfap(+) astrocyte decorated with Kir4.1, astrocytic Nrxn1, and vGluT2. Much to celebrate and be grateful 9 months into having a lab filled with some talented folks.
This work has now been accepted - Congrats to all involved!
doi.org/10.1242/dmm....
#Neurodevelopment #Genetics #Zebrafish
doi.org/10.1242/dmm....
#Neurodevelopment #Genetics #Zebrafish
June 16, 2026 at 12:13 PM
This work has now been accepted - Congrats to all involved!
doi.org/10.1242/dmm....
#Neurodevelopment #Genetics #Zebrafish
doi.org/10.1242/dmm....
#Neurodevelopment #Genetics #Zebrafish
We measured gene expression in the blood of wild song sparrows after simulated territorial intrusion. This was a paired design, comparing response to local vs. foreign songs.
The coolest result... song-associated genes (FOXP2, NRXN1) had higher expression when birds heard local songs!
The coolest result... song-associated genes (FOXP2, NRXN1) had higher expression when birds heard local songs!
September 24, 2026 at 8:50 PM
We measured gene expression in the blood of wild song sparrows after simulated territorial intrusion. This was a paired design, comparing response to local vs. foreign songs.
The coolest result... song-associated genes (FOXP2, NRXN1) had higher expression when birds heard local songs!
The coolest result... song-associated genes (FOXP2, NRXN1) had higher expression when birds heard local songs!
I’m so proud and beyond thrilled to share the final product of my thesis work from @sinaibrain.bsky.social , now published in @nature.com! Here, we explored the complex functional impact of rare neurexin-1 deletions across human glutamatergic and GABAergic neurons!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature
How NRXN1 variants affect multiple neuropsychiatric disorders is explored.
www.nature.com
April 9, 2025 at 4:51 PM
I’m so proud and beyond thrilled to share the final product of my thesis work from @sinaibrain.bsky.social , now published in @nature.com! Here, we explored the complex functional impact of rare neurexin-1 deletions across human glutamatergic and GABAergic neurons!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
6) One of the clearest hits in DecodeME was for the gene CA10 on chromosome 17.
It's involved in neurexin binding, so it has a clear connection to other genes on the list, such as NRXN1 (neurexin 1) and NLGN1 (Neuroligin 1).
It's involved in neurexin binding, so it has a clear connection to other genes on the list, such as NRXN1 (neurexin 1) and NLGN1 (Neuroligin 1).
August 16, 2026 at 7:33 AM
6) One of the clearest hits in DecodeME was for the gene CA10 on chromosome 17.
It's involved in neurexin binding, so it has a clear connection to other genes on the list, such as NRXN1 (neurexin 1) and NLGN1 (Neuroligin 1).
It's involved in neurexin binding, so it has a clear connection to other genes on the list, such as NRXN1 (neurexin 1) and NLGN1 (Neuroligin 1).
5) We can also look at the individual genes that drive these associations with synapses. For DecodeME, these included synaptic genes such as:
LRRC7
STAU1
ARFGEF2
CACNAIE
DCC
PEBP1
VWC2
NEURL1
INA
SHISA6
DENND1A
NRXN1
....
etc.
LRRC7
STAU1
ARFGEF2
CACNAIE
DCC
PEBP1
VWC2
NEURL1
INA
SHISA6
DENND1A
NRXN1
....
etc.
August 16, 2026 at 7:33 AM
5) We can also look at the individual genes that drive these associations with synapses. For DecodeME, these included synaptic genes such as:
LRRC7
STAU1
ARFGEF2
CACNAIE
DCC
PEBP1
VWC2
NEURL1
INA
SHISA6
DENND1A
NRXN1
....
etc.
LRRC7
STAU1
ARFGEF2
CACNAIE
DCC
PEBP1
VWC2
NEURL1
INA
SHISA6
DENND1A
NRXN1
....
etc.
#Thalamic NRXN1-mediated input to #human #cortical progenitors drives excitatory #neurogenesis | Science www.science.org/doi/10.1126/...
Thalamic NRXN1-mediated input to human cortical progenitors drives excitatory neurogenesis
The human cerebral cortex develops through coordinated signals from within the cortex and from other brain regions, including the thalamus. However, how thalamic neuronal projections influence early h...
www.science.org
September 9, 2026 at 5:38 PM
#Thalamic NRXN1-mediated input to #human #cortical progenitors drives excitatory #neurogenesis | Science www.science.org/doi/10.1126/...
Thalamic NRXN1-Mediated Input to Human Cortical Progenitors Drives Upper Layer Neurogenesis https://www.biorxiv.org/content/10.1101/2025.04.25.650717v1
April 29, 2025 at 8:15 PM
Thalamic NRXN1-Mediated Input to Human Cortical Progenitors Drives Upper Layer Neurogenesis https://www.biorxiv.org/content/10.1101/2025.04.25.650717v1
Congrats to Claudia Nguyen and the @bhadurilab.bsky.social team members on this super cool paper using human corticothalamic assembloids to reveal mechanisms by which thalamic innervation regulates corticogenesis during neurodevelopment.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Thalamic NRXN1-mediated input to human cortical progenitors drives excitatory neurogenesis
The human cerebral cortex develops through coordinated signals from within the cortex and from other brain regions, including the thalamus. However, how thalamic neuronal projections influence early h...
www.science.org
September 4, 2026 at 12:32 PM
Congrats to Claudia Nguyen and the @bhadurilab.bsky.social team members on this super cool paper using human corticothalamic assembloids to reveal mechanisms by which thalamic innervation regulates corticogenesis during neurodevelopment.
www.science.org/doi/10.1126/...
www.science.org/doi/10.1126/...
Excited to present our new preprint led by @claudianguyen95 uncovering how thalamic input shapes human cortical development! We discover that thalamic axons promote the generation of upper layer cortical neurons through NRXN1-mediated contacts with outer radial glia. www.biorxiv.org/content/10.1...
May 6, 2025 at 4:50 PM
Excited to present our new preprint led by @claudianguyen95 uncovering how thalamic input shapes human cortical development! We discover that thalamic axons promote the generation of upper layer cortical neurons through NRXN1-mediated contacts with outer radial glia. www.biorxiv.org/content/10.1...
Excited to share the first preprint from our lab! Our work examines how isoform-specific NRXN1 deletions—a gene strongly associated with neurodevelopmental disorders—shape sensorimotor and social behavior in zebrafish. www.biorxiv.org/content/10.6...
#Neurodevelopment #Genetics #Zebrafish
#Neurodevelopment #Genetics #Zebrafish
www.biorxiv.org
January 23, 2026 at 4:21 PM
Excited to share the first preprint from our lab! Our work examines how isoform-specific NRXN1 deletions—a gene strongly associated with neurodevelopmental disorders—shape sensorimotor and social behavior in zebrafish. www.biorxiv.org/content/10.6...
#Neurodevelopment #Genetics #Zebrafish
#Neurodevelopment #Genetics #Zebrafish
I enjoyed reading this @nature.com
study by @mbfneuro.bsky.social @kristenbrennand.bsky.social and colleagues on the nuances & phenotypic complexities of rare
heterozygous neurexin-1 deletions 🧪🧬🧠
www.nature.com/articles/s41...
study by @mbfneuro.bsky.social @kristenbrennand.bsky.social and colleagues on the nuances & phenotypic complexities of rare
heterozygous neurexin-1 deletions 🧪🧬🧠
www.nature.com/articles/s41...
Phenotypic complexities of rare heterozygous neurexin-1 deletions - Nature
How NRXN1 variants affect multiple neuropsychiatric disorders is explored.
www.nature.com
April 10, 2025 at 8:56 AM
I enjoyed reading this @nature.com
study by @mbfneuro.bsky.social @kristenbrennand.bsky.social and colleagues on the nuances & phenotypic complexities of rare
heterozygous neurexin-1 deletions 🧪🧬🧠
www.nature.com/articles/s41...
study by @mbfneuro.bsky.social @kristenbrennand.bsky.social and colleagues on the nuances & phenotypic complexities of rare
heterozygous neurexin-1 deletions 🧪🧬🧠
www.nature.com/articles/s41...
New #Neurexin and #Neuroligin antibodies just joined our Synaptic Cleft Antibody Collection today, available through @addgene.bsky.social —
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
buff.ly/YYL1WWE
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
buff.ly/YYL1WWE
Synaptic cleft antibody collection
Neuronal communication and neurological function rely on chemical signaling across a narrow extracellular space known as the synaptic cleft. Proteins posi
buff.ly
February 20, 2026 at 5:57 PM
New #Neurexin and #Neuroligin antibodies just joined our Synaptic Cleft Antibody Collection today, available through @addgene.bsky.social —
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
buff.ly/YYL1WWE
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
buff.ly/YYL1WWE
Here, we develop a #CRISPR #epi-editing platform to probe #GeneRegulation in the brain. Silencing Neurexin-1 promoters in neurons affects downstream promoters & splicing patterns. Our data reveals transcriptional interference as key to shaping cell type-specific RNA isoforms of synaptic genes. 🧪
September 16, 2025 at 2:15 PM
Here, we develop a #CRISPR #epi-editing platform to probe #GeneRegulation in the brain. Silencing Neurexin-1 promoters in neurons affects downstream promoters & splicing patterns. Our data reveals transcriptional interference as key to shaping cell type-specific RNA isoforms of synaptic genes. 🧪
Rare heterozygous deletions in NRXN1 at 2p16.3 complexly affect neuropsychiatric disorder risks. Tailored therapies may be needed. PMID:40205044, Nature 2025, @Nature https://doi.org/10.1038/s41586-025-08864-9 #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
Phenotypic complexities of rare heterozygous neurexin-1 deletions | Nature
Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the extent to which diverse mutations—sometimes affecting the same gene—will require tailored therapeutic strategies. Here we consider this in the context of rare neuropsychiatric disorder-associated copy number variants (2p16.3) resulting in heterozygous deletions in NRXN1, which encodes a presynaptic cell-adhesion protein that serves as a critical synaptic organizer in the brain. Complex patterns of NRXN1 alternative splicing are fundamental to establishing diverse neurocircuitry, vary between the cell types of the brain and are differentially affected by unique (non-recurrent) deletions1. We contrast the cell-type-specific effect of patient-specific mutations in NRXN1 using human-induced pluripotent stem cells, finding that perturbations in NRXN1 splicing result in divergent cell-type-specific synaptic outcomes. Through distinct loss-of-function (
doi.org
April 14, 2025 at 1:10 PM
Brain-related proteins were altered in ME/CFS. CNTN4, EPHA4 (linked to memory and plasticity) were low at rest. After exercise, NRXN1 (nerve signaling) dropped.
The urea cycle was also disrupted, and oxidative stress markers like AOC2, CUTC, and MAPK6 rose post-exercise - signaling cell stress.
The urea cycle was also disrupted, and oxidative stress markers like AOC2, CUTC, and MAPK6 rose post-exercise - signaling cell stress.
September 4, 2025 at 3:55 PM
Brain-related proteins were altered in ME/CFS. CNTN4, EPHA4 (linked to memory and plasticity) were low at rest. After exercise, NRXN1 (nerve signaling) dropped.
The urea cycle was also disrupted, and oxidative stress markers like AOC2, CUTC, and MAPK6 rose post-exercise - signaling cell stress.
The urea cycle was also disrupted, and oxidative stress markers like AOC2, CUTC, and MAPK6 rose post-exercise - signaling cell stress.
Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons
Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons
English et al. demonstrate that NRXN1-deletion iPSC-derived neurons exhibit distinct autism spectrum disorder- and schizophrenia-related synaptic phenotypes in excitatory-inhibitory signaling, revealing disorder-specific impairments in synaptic function and offering mechanistic insight relevant to therapeutic development for NRXN1-associated synaptopathies.
dlvr.it
April 7, 2026 at 7:50 PM
Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons
New Neurexin and Neuroligin antibodies just joined our Synaptic Cleft Antibody Collection, available through @addgene.bsky.social:
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
View more data ➡️ buff.ly/YYL1WWE
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
View more data ➡️ buff.ly/YYL1WWE
Synaptic cleft antibody collection
Neuronal communication and neurological function rely on chemical signaling across a narrow extracellular space known as the synaptic cleft. Proteins posi
buff.ly
February 27, 2026 at 5:57 PM
New Neurexin and Neuroligin antibodies just joined our Synaptic Cleft Antibody Collection, available through @addgene.bsky.social:
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
View more data ➡️ buff.ly/YYL1WWE
🔹 IPI-NRXN1α
🔹 IPI-NRXN2α
🔹 IPI-NRXN3α
🔹 IPI-NLGN2
🔹 IPI-NLGN3
View more data ➡️ buff.ly/YYL1WWE
Lastly, copy number variations (CNVs), marked in green, involve larger segments of DNA that are either duplicated or deleted. As seen with NRXN1, a gene essential for synaptic connectivity. Deletions of NRXN1 are strongly associated with schizophrenia.
December 9, 2024 at 9:55 AM
Lastly, copy number variations (CNVs), marked in green, involve larger segments of DNA that are either duplicated or deleted. As seen with NRXN1, a gene essential for synaptic connectivity. Deletions of NRXN1 are strongly associated with schizophrenia.
Our key player: NRXN1, a cell adhesion molecule expressed by thalamic neurons, which directly contacts outer radial glia. 🤝 We identify NRXN1-NLGN1 gene expression and protein colocalization along thalamocortical afferents and outer radial glia in the assembloid and human primary cortical tissue.
May 6, 2025 at 4:50 PM
Our key player: NRXN1, a cell adhesion molecule expressed by thalamic neurons, which directly contacts outer radial glia. 🤝 We identify NRXN1-NLGN1 gene expression and protein colocalization along thalamocortical afferents and outer radial glia in the assembloid and human primary cortical tissue.
The authors included RRIDs in their in Disease Models & Mechanisms paper! Thanks for making your methods matter! #reproducibility #ReproducibleResearch #methodsmatter
Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions
Read the full paper: Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions
doi.org
August 9, 2026 at 7:03 AM
The authors included RRIDs in their in Disease Models & Mechanisms paper! Thanks for making your methods matter! #reproducibility #ReproducibleResearch #methodsmatter
A paper using RRID:AB_2534077 from @thermofishersci.bsky.social was just published in Cell Reports. RRIDs improve reproducibility in scientific research. #OpenResearch #STMpublishing #methodsmatter
Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons
Read the full paper: Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons
doi.org
March 25, 2026 at 7:02 AM
A paper using RRID:AB_2534077 from @thermofishersci.bsky.social was just published in Cell Reports. RRIDs improve reproducibility in scientific research. #OpenResearch #STMpublishing #methodsmatter