Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
ConclusionsThis study highlights the importance of PGT-M in preventing children born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - March 12, 2024 Category: Reproduction Medicine Source Type: research
Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes
Res Sq [Preprint]. 2024 Feb 28:rs.3.rs-3818622. doi: 10.21203/rs.3.rs-3818622/v1.ABSTRACTSpinal muscular atrophy (SMA) genes, SMN1 and SMN2 , produce multiple circular RNAs (circRNAs), including C2A-2B-3-4 that encompasses early exons 2A, 2B, 3 and 4. Here we report the transcriptome- and proteome-wide effects of overexpression of C2A-2B-3-4 in inducible HEK293 cells. Our RNA-Seq analysis revealed altered expression of ~ 15% genes (4,172 genes) by C2A-2B-3-4. About half of the affected genes by C2A-2B-3-4 remained unaffected by L2A-2B-3-4, a linear transcript encompassing exons 2A, 2B, 3 and 4 of SMN1 / SMN2 . These findin...
Source: Cell Research - March 11, 2024 Category: Cytology Authors: Diou Luo Eric Ottesen Ji Heon Lee Ravindra Singh Source Type: research
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR
Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation. Homozygous deletions of exon 7 in SMN1 result in 95... (Source: BMC Neurology)
Source: BMC Neurology - March 11, 2024 Category: Neurology Authors: Mei Yao, Liya Jiang, Yicheng Yu, Yiqin Cui, Yuwei Chen, Dongming Zhou, Feng Gao and Shanshan Mao Tags: Research Source Type: research
TransNeT-CGP: A cluster-based comorbid gene prioritization by integrating transcriptomics and network-topological features
Comput Biol Chem. 2024 Feb 27;110:108038. doi: 10.1016/j.compbiolchem.2024.108038. Online ahead of print.ABSTRACTThe local disruptions caused by the genes of one disease can influence the pathways associated with the other diseases resulting in comorbidity. For gene therapies, it is necessary to prioritize the key genes that regulate common biological mechanisms to tackle the issues caused by overlapping diseases. This work proposes a clustering-based computational approach for prioritising the comorbid genes within the overlapping disease modules by analyzing Protein-Protein Interaction networks. For this, a sub-network w...
Source: Computational Biology and Chemistry - March 10, 2024 Category: Bioinformatics Authors: K R Saranya E R Vimina F R Pinto Source Type: research
TransNeT-CGP: A cluster-based comorbid gene prioritization by integrating transcriptomics and network-topological features
Comput Biol Chem. 2024 Feb 27;110:108038. doi: 10.1016/j.compbiolchem.2024.108038. Online ahead of print.ABSTRACTThe local disruptions caused by the genes of one disease can influence the pathways associated with the other diseases resulting in comorbidity. For gene therapies, it is necessary to prioritize the key genes that regulate common biological mechanisms to tackle the issues caused by overlapping diseases. This work proposes a clustering-based computational approach for prioritising the comorbid genes within the overlapping disease modules by analyzing Protein-Protein Interaction networks. For this, a sub-network w...
Source: Computational Biology and Chemistry - March 10, 2024 Category: Bioinformatics Authors: K R Saranya E R Vimina F R Pinto Source Type: research
TransNeT-CGP: A cluster-based comorbid gene prioritization by integrating transcriptomics and network-topological features
Comput Biol Chem. 2024 Feb 27;110:108038. doi: 10.1016/j.compbiolchem.2024.108038. Online ahead of print.ABSTRACTThe local disruptions caused by the genes of one disease can influence the pathways associated with the other diseases resulting in comorbidity. For gene therapies, it is necessary to prioritize the key genes that regulate common biological mechanisms to tackle the issues caused by overlapping diseases. This work proposes a clustering-based computational approach for prioritising the comorbid genes within the overlapping disease modules by analyzing Protein-Protein Interaction networks. For this, a sub-network w...
Source: Computational Biology and Chemistry - March 10, 2024 Category: Bioinformatics Authors: K R Saranya E R Vimina F R Pinto Source Type: research
U1 snrnp biogenesis deffects in neurodegenerative diseases
Chembiochem. 2024 Mar 9:e202300864. doi: 10.1002/cbic.202300864. Online ahead of print.ABSTRACTThe U1 small ribonucleoprotein (U1 snRNP) plays a pivotal role in the intricate process of gene expression, specifically within nuclear RNA processing. By initiating the splicing reaction and modulating 3'-end processing, U1 snRNP exerts precise control over RNA metabolism and gene expression. This ribonucleoparticle is abundantly present, and its complex biogenesis necessitates shuttling between the nuclear and cytoplasmic compartments. Over the past three decades, extensive research has illuminated the crucial connection betwee...
Source: Chembiochem - March 9, 2024 Category: Biochemistry Authors: Sebastien Campagne Source Type: research
Global Risdiplam Compassionate Use Program for Patients With Type 1 or 2 Spinal Muscular Atrophy
Clin Ther. 2024 Mar 8:S0149-2918(24)00061-4. doi: 10.1016/j.clinthera.2024.02.006. Online ahead of print.ABSTRACTPURPOSE: Spinal muscular atrophy (SMA) is a genetic neuromuscular disease causing progressive muscle weakness and reducing life expectancy. Risdiplam (Evrysdi; Genentech/F. Hoffmann-La Roche Ltd, Basel, Switzerland) is a drug approved for use in the treatment of patients with SMA. The ongoing global risdiplam Compassionate Use Program (CUP), initiated in November 2019, is the largest CUP in SMA, currently providing access to risdiplam for >2000 patients with type 1 or 2 SMA in 59 countries. Here, the challeng...
Source: Clinical Therapeutics - March 9, 2024 Category: Drugs & Pharmacology Authors: Rakesh Kantaria Karen Baker Senam Beckley-Kartey Ksenija Gorni Isabelle Montrocher-Ober Laurence Vindevoghel Source Type: research
U1 snrnp biogenesis deffects in neurodegenerative diseases
Chembiochem. 2024 Mar 9:e202300864. doi: 10.1002/cbic.202300864. Online ahead of print.ABSTRACTThe U1 small ribonucleoprotein (U1 snRNP) plays a pivotal role in the intricate process of gene expression, specifically within nuclear RNA processing. By initiating the splicing reaction and modulating 3'-end processing, U1 snRNP exerts precise control over RNA metabolism and gene expression. This ribonucleoparticle is abundantly present, and its complex biogenesis necessitates shuttling between the nuclear and cytoplasmic compartments. Over the past three decades, extensive research has illuminated the crucial connection betwee...
Source: Chembiochem - March 9, 2024 Category: Biochemistry Authors: Sebastien Campagne Source Type: research
Global Risdiplam Compassionate Use Program for Patients With Type 1 or 2 Spinal Muscular Atrophy
Clin Ther. 2024 Mar 8:S0149-2918(24)00061-4. doi: 10.1016/j.clinthera.2024.02.006. Online ahead of print.ABSTRACTPURPOSE: Spinal muscular atrophy (SMA) is a genetic neuromuscular disease causing progressive muscle weakness and reducing life expectancy. Risdiplam (Evrysdi; Genentech/F. Hoffmann-La Roche Ltd, Basel, Switzerland) is a drug approved for use in the treatment of patients with SMA. The ongoing global risdiplam Compassionate Use Program (CUP), initiated in November 2019, is the largest CUP in SMA, currently providing access to risdiplam for >2000 patients with type 1 or 2 SMA in 59 countries. Here, the challeng...
Source: Clinical Therapeutics - March 9, 2024 Category: Drugs & Pharmacology Authors: Rakesh Kantaria Karen Baker Senam Beckley-Kartey Ksenija Gorni Isabelle Montrocher-Ober Laurence Vindevoghel Source Type: research
U1 snrnp biogenesis deffects in neurodegenerative diseases
Chembiochem. 2024 Mar 9:e202300864. doi: 10.1002/cbic.202300864. Online ahead of print.ABSTRACTThe U1 small ribonucleoprotein (U1 snRNP) plays a pivotal role in the intricate process of gene expression, specifically within nuclear RNA processing. By initiating the splicing reaction and modulating 3'-end processing, U1 snRNP exerts precise control over RNA metabolism and gene expression. This ribonucleoparticle is abundantly present, and its complex biogenesis necessitates shuttling between the nuclear and cytoplasmic compartments. Over the past three decades, extensive research has illuminated the crucial connection betwee...
Source: Chembiochem - March 9, 2024 Category: Biochemistry Authors: Sebastien Campagne Source Type: research
Vaccination proposal for patients on onasemnogene abeparvovec therapy
Eur J Paediatr Neurol. 2024 Mar 1;49:95-99. doi: 10.1016/j.ejpn.2024.02.010. Online ahead of print.ABSTRACTThe approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomaticall...
Source: European Journal of Paediatric Neurology - March 8, 2024 Category: Neurology Authors: Sarolta Dobner Andrea Kulcs ár Zolt án Liptai Zsuzsanna Vojnisek Tam ás Constantin L éna Szabó Source Type: research
Vaccination proposal for patients on onasemnogene abeparvovec therapy
Eur J Paediatr Neurol. 2024 Mar 1;49:95-99. doi: 10.1016/j.ejpn.2024.02.010. Online ahead of print.ABSTRACTThe approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomaticall...
Source: European Journal of Paediatric Neurology - March 8, 2024 Category: Neurology Authors: Sarolta Dobner Andrea Kulcs ár Zolt án Liptai Zsuzsanna Vojnisek Tam ás Constantin L éna Szabó Source Type: research
Vaccination proposal for patients on onasemnogene abeparvovec therapy
Eur J Paediatr Neurol. 2024 Mar 1;49:95-99. doi: 10.1016/j.ejpn.2024.02.010. Online ahead of print.ABSTRACTThe approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomaticall...
Source: European Journal of Paediatric Neurology - March 8, 2024 Category: Neurology Authors: Sarolta Dobner Andrea Kulcs ár Zolt án Liptai Zsuzsanna Vojnisek Tam ás Constantin L éna Szabó Source Type: research
