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CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.05.30.494061Source: DataRank Database

CRISPR-Mediated Generation and Characterization of a Gaa Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2022). On theSindex it has a DataRank of 0.

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Enrichment:Funding (2 grants)OA: greenTopics (85)IDs (PubMed, OpenAlex)SDGs (2)

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Authors (10)

Jeffrey Y. Huang ORCID,Jerry Harb ORCID,Allisandra Rha ORCID,Nancy D. Dalton,Chloe Christensen ORCID

Live enrichment

PubMed:19162232 OpenAlex:https://openalex.org/W4281962923

National Institutes of Health

Grant: 3P30CA062203-27S1

Clinical Trial Advancement and Development for Sarcomas

National Institutes of Health

Grant: 5T32GM008243-07

MEDICAL GENETICS - UCLA INTERCAMPUS PROGRAM

greenLicense: CC BY

repositoryhttps://www.biorxiv.org/content/biorxiv/early/2022/05/30/2022.05.30.494061.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2022.05.30.494061

repositoryhttps://doi.org/10.1101/2022.05.30.494061

https://doi.org/10.1038/s41598-022-25914-8

Fields of Study

Lysosomal Storage Disorders ResearchCRISPR and Genetic EngineeringCalcium signaling and nucleotide metabolism0301 basic medicine0303 health sciences03 medical and health sciences

Keywords

Glycogen storage disease type IIHypotoniaBiologySkeletal muscleGene knockinCRISPRMutationCardiomyopathyInternal medicineMyocyteEndocrinologyMolecular biologyDiseaseGeneGeneticsMedicineEnzyme replacement therapyHeart failureSkeletal (mesh)Medical Physiology3208 Medical Physiology (for-2020)CardiovascularMiceGlucan 12.1 Biological and endogenous factorsAnimals (mesh)32 Biomedical and Clinical Sciences (for-2020)Liver Disease (rcdc)Pediatricalpha-Glucosidases (mesh)Humans (mesh)3 Good Health and Well Being (sdg)Liver DiseaseQRMice (mesh)SkeletalHeart Disease4-alpha-Glucosidase (mesh)MuscleCardiovascular (rcdc)GlycogenBiotechnologyDigestive Diseases (rcdc)570ScienceChronic Liver Disease and CirrhosisHeart Disease (rcdc)610Biotechnology (rcdc)Glycogen Storage Disease Type II (mesh)ArticleChronic Liver Disease and Cirrhosis (rcdc)Rare Diseases (rcdc)Rare DiseasesAnimalsHumansMuscle, SkeletalPediatric (rcdc)Animal (mesh)Hypertrophic (mesh)Biomedical and Clinical SciencesAnimalGenetics (rcdc)InfantInfant (mesh)alpha-Glucosidases2.1 Biological and endogenous factors (hrcs-rac)Cardiomyopathy, HypertrophicDisease Models, AnimalOrphan DrugGood Health and Well BeingHypertrophicDisease ModelsOrphan Drug (rcdc)Glycogen (mesh)4-alpha-GlucosidaseGlucan 1,4-alpha-GlucosidaseDigestive Diseases

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being