Allisandra Rha
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View article: Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder
Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder Open
View article: Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing
Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing Open
GM1 gangliosidosis (GM1) is a rare autosomal recessive neurogenerative lysosomal storage disease characterized by deficiency of beta-galactosidase (β-gal) and intralysosomal accumulation of GM1 ganglioside and other glycoconjugates. Resour…
View article: Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells
Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells Open
View article: Base editing corrects the common Salla disease SLC17A5 c.115C>T variant
Base editing corrects the common Salla disease SLC17A5 c.115C>T variant Open
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to…
View article: Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene Open
View article: CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease Open
View article: Polyanion order controls liquid-to-solid phase transition in peptide/nucleic acid co-assembly
Polyanion order controls liquid-to-solid phase transition in peptide/nucleic acid co-assembly Open
The Central Dogma highlights the mutualistic functions of protein and nucleic acid biopolymers, and this synergy appears prominently in the membraneless organelles widely distributed throughout prokaryotic and eukaryotic organisms alike. R…
View article: 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
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 Open
Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) vari…
View article: CRISPR-Mediated Generation and Characterization of a <i>Gaa</i> Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease
CRISPR-Mediated Generation and Characterization of a <i>Gaa</i> Homozygous c.1935C>A (p.D645E) Pompe Disease Knock-in Mouse Model Recapitulates Human Infantile Onset-Pompe Disease Open
Pompe disease (PD) is an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), leading to reduced degradation and subsequent accumulation of intra-lysosomal glycogen in tissues, especially skeletal and oftent…
View article: GM1 Gangliosidosis: Mechanisms and Management
GM1 Gangliosidosis: Mechanisms and Management Open
The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the GLB1 gene, which codes for β-gal, prevents cleavage of the t…
View article: Electrostatic Complementarity Drives Amyloid/Nucleic Acid Co‐Assembly
Electrostatic Complementarity Drives Amyloid/Nucleic Acid Co‐Assembly Open
Proteinaceous plaques associated with neurodegenerative diseases contain many biopolymers including the polyanions glycosaminoglycans and nucleic acids. Polyanion‐induced amyloid fibrillation has been implicated in disease etiology, but st…
View article: Expanding the informational chemistries of life: peptide/RNA networks
Expanding the informational chemistries of life: peptide/RNA networks Open
The RNA world hypothesis simplifies the complex biopolymer networks underlining the informational and metabolic needs of living systems to a single biopolymer scaffold. This simplification requires abiotic reaction cascades for the constru…