I'm excited to share that we have a new paper out! This is a review about a #RareDisease. We propose that #TBCK Syndrome, #PPP1R21 related intellectual disability, and #FERRY3 intellectual disability, all rare disease, may constitute a new disease class. (1/4)
journals.biologists.com/bio/article/...
journals.biologists.com/bio/article/...
Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class?
Summary: This Review provides a summary of cellular and molecular data about TBCK, PPP1R21, and FERRY3, components of the FERRY complex, and compares clinical symptoms observed upon their mutation.
journals.biologists.com
March 10, 2025 at 7:13 PM
I'm excited to share that we have a new paper out! This is a review about a #RareDisease. We propose that #TBCK Syndrome, #PPP1R21 related intellectual disability, and #FERRY3 intellectual disability, all rare disease, may constitute a new disease class. (1/4)
journals.biologists.com/bio/article/...
journals.biologists.com/bio/article/...
Open Access UCL Research: Expanding the phenotype of PPP1R21-related neurodevelopmental disorder discovery.ucl.ac.uk/id/eprint/10...
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
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UCL Discovery
UCL Discovery is UCL's open access repository, showcasing and providing access to UCL research outputs from all UCL disciplines.
discovery.ucl.ac.uk
February 17, 2025 at 9:33 AM
Open Access UCL Research: Expanding the phenotype of PPP1R21-related neurodevelopmental disorder discovery.ucl.ac.uk/id/eprint/10...
Rapid #Genomics in action: hmz PPP1R21 variant found in 65hrs from sample receipt #AcuteCare @AusGenomics @TeamVCGS @GenomeSeb 10 wks ago, instant match @GeneMatcher @radboudumc @BaylorGenetics, thrilled to see paper out today as Rapid Comm, gene-disease validity established
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function - Rehman - - Human Mutation - Wiley Online Library https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23694#.XAmWDg6Y_SI.twitter
December 20, 2024 at 8:50 PM
Rapid #Genomics in action: hmz PPP1R21 variant found in 65hrs from sample receipt #AcuteCare @AusGenomics @TeamVCGS @GenomeSeb 10 wks ago, instant match @GeneMatcher @radboudumc @BaylorGenetics, thrilled to see paper out today as Rapid Comm, gene-disease validity established
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function - Rehman - - Human Mutation - Wiley Online Library https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23694#.XAmTStZSA2s.twitter
December 20, 2024 at 8:45 PM
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function - Rehman - - Human Mutation - Wiley Online Library https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23694#.XAmTStZSA2s.twitter
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function - Rehman - - Human Mutation - Wiley Online Library https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23694#.XAmWDg6Y_SI.twitter
December 20, 2024 at 8:45 PM
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function - Rehman - - Human Mutation - Wiley Online Library https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23694#.XAmWDg6Y_SI.twitter