@thermofishersci.bsky.social's resource, RRID:AB_2866493, was just reported to be used in the paper. Thanks for making your methods matter! #OpenScience #reproducibility #OpenResearch
PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids
Read the full paper: PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids
doi.org
September 28, 2026 at 7:00 AM
@thermofishersci.bsky.social's resource, RRID:AB_2866493, was just reported to be used in the paper. Thanks for making your methods matter! #OpenScience #reproducibility #OpenResearch
The Structural Basis of Pacs1-Wdr37 Complex Assembly and Stability https://www.biorxiv.org/content/10.1101/2025.11.05.686565v1
November 6, 2025 at 2:45 AM
The Structural Basis of Pacs1-Wdr37 Complex Assembly and Stability https://www.biorxiv.org/content/10.1101/2025.11.05.686565v1
📣New from Mekzine et al!
📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
Allele-specific RNA interference silences the mutant PACS1 transcript causing Schuurs-Hoeijmakers
syndrome, a rare neurodevelopmental disorder. RNA sequencing of cells from affected
individuals reveal...
www.cell.com
September 18, 2025 at 4:55 PM
📣New from Mekzine et al!
📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
📄Allele-specific RNAi therapy corrects an extracellular matrix defect in Schuurs-Hoeijmakers syndrome
Thank you @pacmandaily.bsky.social for the dailypacmans
I had so much fun the first time I also redrew my favorite still from the show (www.the-other-view.com/images/pacs1...)
Have a lovely day
I had so much fun the first time I also redrew my favorite still from the show (www.the-other-view.com/images/pacs1...)
Have a lovely day
May 4, 2026 at 9:49 PM
Thank you @pacmandaily.bsky.social for the dailypacmans
I had so much fun the first time I also redrew my favorite still from the show (www.the-other-view.com/images/pacs1...)
Have a lovely day
I had so much fun the first time I also redrew my favorite still from the show (www.the-other-view.com/images/pacs1...)
Have a lovely day
🧬 New EJHG study expands the phenotypic spectrum of PACS1-related disorder and identifies a disease-specific DNA methylation episignature. These findings will support assessment of non-recurrent PACS1 variants and improve diagnosis in unresolved NDDs.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
March 26, 2026 at 12:09 PM
🧬 New EJHG study expands the phenotypic spectrum of PACS1-related disorder and identifies a disease-specific DNA methylation episignature. These findings will support assessment of non-recurrent PACS1 variants and improve diagnosis in unresolved NDDs.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
The Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability pubmed.ncbi.nlm.nih.gov/41279321/ #cryoem
November 25, 2025 at 11:11 PM
The Structural Basis for Pacs1-Wdr37 Complex Assembly and Stability pubmed.ncbi.nlm.nih.gov/41279321/ #cryoem
The authors included RRIDs in their in Communications Biology paper! Thanks for making your methods matter! #OpenScience #ReproducibleResearch #reproducibility
PACS1 syndrome mutation disrupts dynein-mediated cargo transport via HDAC6 and BICD2 - Communications Biology
PACS1 (p.R203W) recruits HDAC6 and BICD2 to disrupt dynein motility and impair organelle positioning. Lis1 or HDAC6 inhibition rescues these deficits, revealing a pathogenic mechanism and placing PACS1 syndrome among the microtubule trafficking disorders.
doi.org
April 2, 2026 at 7:00 AM
The authors included RRIDs in their in Communications Biology paper! Thanks for making your methods matter! #OpenScience #ReproducibleResearch #reproducibility
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives scientiasalut.gencat.cat/handle/11351... #ScientiaVH
Making sure you're not a bot!
scientiasalut.gencat.cat
August 14, 2026 at 11:31 AM
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives scientiasalut.gencat.cat/handle/11351... #ScientiaVH
The authors included RRIDs in their paper! Thanks for making your methods matter! #reproducibility #ReproducibleResearch #RRID
PACS-1 variant protein is aberrantly localized in Caenorhabditis elegans model of PACS1/PACS2 syndromes
doi.org
November 21, 2025 at 8:00 AM
The authors included RRIDs in their paper! Thanks for making your methods matter! #reproducibility #ReproducibleResearch #RRID
The authors included RRIDs in their paper! We value the author's support of reproducibility. #methodsmatter #STMpublishing #reproducibility
PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes
doi.org
November 19, 2025 at 8:01 AM
The authors included RRIDs in their paper! We value the author's support of reproducibility. #methodsmatter #STMpublishing #reproducibility
Introducing Dr. Caryl Young!
🎉 Congrats to @jax.org & @umainegradschool.bsky.social Ph.D. candidate Caryl Young for successfully defending her dissertation, "A Humanized Mouse Model for PACS1 Syndrome: Phenotypic Characterization & Comparative Eval. of Therapeutic Strategies."
#JAXTrainee #PhDSky
🎉 Congrats to @jax.org & @umainegradschool.bsky.social Ph.D. candidate Caryl Young for successfully defending her dissertation, "A Humanized Mouse Model for PACS1 Syndrome: Phenotypic Characterization & Comparative Eval. of Therapeutic Strategies."
#JAXTrainee #PhDSky
June 5, 2026 at 6:23 PM
Introducing Dr. Caryl Young!
🎉 Congrats to @jax.org & @umainegradschool.bsky.social Ph.D. candidate Caryl Young for successfully defending her dissertation, "A Humanized Mouse Model for PACS1 Syndrome: Phenotypic Characterization & Comparative Eval. of Therapeutic Strategies."
#JAXTrainee #PhDSky
🎉 Congrats to @jax.org & @umainegradschool.bsky.social Ph.D. candidate Caryl Young for successfully defending her dissertation, "A Humanized Mouse Model for PACS1 Syndrome: Phenotypic Characterization & Comparative Eval. of Therapeutic Strategies."
#JAXTrainee #PhDSky
Find a call for projects on PACS1 syndrome that may be of interest to you fondation-maladiesrares.org/wp-content/u.... The association will be present at the round table discussion organized at the next Club Exo-Endo meeting. Don't forget to register!
exoendo.org/evenement/27...
exoendo.org/evenement/27...
27ème congrès du club Exocytose-Endocytose - Fort-Mahon
Speakers invités: Marc Bitoun - Centre de Recherche en Myologie, Paris Aylin Hanyaloglu - Imperial College, London Sara Sigismund - University of Milan Roosmarijn Vandenbroucke - Ghent University
exoendo.org
March 13, 2025 at 11:38 AM
Find a call for projects on PACS1 syndrome that may be of interest to you fondation-maladiesrares.org/wp-content/u.... The association will be present at the round table discussion organized at the next Club Exo-Endo meeting. Don't forget to register!
exoendo.org/evenement/27...
exoendo.org/evenement/27...
Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons https://www.biorxiv.org/content/10.64898/2026.08.25.747101v1
September 1, 2026 at 3:17 PM
Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons https://www.biorxiv.org/content/10.64898/2026.08.25.747101v1
Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons https://www.biorxiv.org/content/10.64898/2026.08.25.747101v1
September 1, 2026 at 3:17 PM
Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons https://www.biorxiv.org/content/10.64898/2026.08.25.747101v1
📢 Today is PACS1 Related Syndrome Awareness Day!
Learn more in Unique’s PACS1-related syndrome guide: bit.ly/PACS1Guide
#PACS1 #RareChromosome #UniqueCharity
Learn more in Unique’s PACS1-related syndrome guide: bit.ly/PACS1Guide
#PACS1 #RareChromosome #UniqueCharity
February 7, 2025 at 8:00 AM
📢 Today is PACS1 Related Syndrome Awareness Day!
Learn more in Unique’s PACS1-related syndrome guide: bit.ly/PACS1Guide
#PACS1 #RareChromosome #UniqueCharity
Learn more in Unique’s PACS1-related syndrome guide: bit.ly/PACS1Guide
#PACS1 #RareChromosome #UniqueCharity
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals www.nature.com/articles/s41... #hvhebron #gen
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals - European Journal of Human Genetics
European Journal of Human Genetics - DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
www.nature.com
April 14, 2026 at 5:15 PM
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals www.nature.com/articles/s41... #hvhebron #gen
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives www.mdpi.com/2076-328X/16... #hvhebron #gen [Text complet]
www.mdpi.com
February 12, 2026 at 10:43 AM
Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives www.mdpi.com/2076-328X/16... #hvhebron #gen [Text complet]
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes scientiasalut.gencat.cat/handle/11351... #ScientiaVH
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes
scientiasalut.gencat.cat
November 5, 2025 at 8:21 AM
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes scientiasalut.gencat.cat/handle/11351... #ScientiaVH
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes www.mdpi.com/1422-0067/26... #hvhebron #gen [Text complet]
www.mdpi.com
September 4, 2025 at 12:07 PM
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes www.mdpi.com/1422-0067/26... #hvhebron #gen [Text complet]
Researchers from @nuautismcenter.bsky.social & Pitt now have a better understanding of the pathogenic mechanisms of #PACS1 syndrome. The team performed proteomic analysis on human brain #organoids with & without the genetic variant. 🧪
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids
PACS1 syndrome is a neurodevelopmental disorder resulting from a unique de novo p.R203W variant in Phosphofurin Acidic Cluster Sorting protein 1 (PACS1). PACS1 encodes a multifunctional sorting protei...
www.biorxiv.org
May 16, 2025 at 3:57 PM
Researchers from @nuautismcenter.bsky.social & Pitt now have a better understanding of the pathogenic mechanisms of #PACS1 syndrome. The team performed proteomic analysis on human brain #organoids with & without the genetic variant. 🧪
www.biorxiv.org/content/10.1...
www.biorxiv.org/content/10.1...
PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes https://www.biorxiv.org/content/10.1101/2024.04.22.590644v1
PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes https://www.biorxiv.org/content/10.1101/2024.04.22.590644v1
PACS (Phosphofurin Acidic Cluster Sorting Protein) proteins are known for their roles in sorting car
www.biorxiv.org
April 26, 2024 at 4:33 PM
PACS-1 variant protein is aberrantly localized in C. elegans model of PACS1/PACS2 syndromes https://www.biorxiv.org/content/10.1101/2024.04.22.590644v1
The Structural Basis of Pacs1-Wdr37 Complex Assembly and Stability https://www.biorxiv.org/content/10.1101/2025.11.05.686565v1
November 6, 2025 at 2:45 AM
The Structural Basis of Pacs1-Wdr37 Complex Assembly and Stability https://www.biorxiv.org/content/10.1101/2025.11.05.686565v1
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids https://www.biorxiv.org/content/10.1101/2025.04.23.650290v1
April 24, 2025 at 6:15 AM
PACS1 syndrome variant alters proteomic landscape of developing cortical organoids https://www.biorxiv.org/content/10.1101/2025.04.23.650290v1