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Discovery of antimicrobial agent targeting tryptophan synthase

Protein science, 2022-02, Vol.31 (2), p.432-442

2022

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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

Scientific reports, 2022-12, Vol.12 (1), p.21576-13, Article 21576

2022

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CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

Scientific reports, 2020-06, Vol.10 (1), p.10321-10321, Article 10321

2020

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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

Stem cell research, 2023-06, Vol.69, p.103117-103117, Article 103117

2023

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Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice

Lipids, 2020-11, Vol.55 (6), p.627-637

2020

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Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Molecular therapy. Nucleic acids, 2023-12, Vol.34, p.102022, Article 102022

2023

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Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101036-101036, Article 101036

2024

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Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease

Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.452-463

2022

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Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Molecular therapy. Methods & clinical development, 2018-09, Vol.10, p.113-127

2018

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Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

Brain (London, England : 1878), 2018-01, Vol.141 (1), p.99-116

2018

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A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I

Molecular therapy. Methods & clinical development, 2018-03, Vol.8 (C), p.42-51

2018

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Neuropathology of murine Sanfilippo D syndrome

Molecular genetics and metabolism, 2021-12, Vol.134 (4), p.323-329

2021

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Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing

Stem cell research, 2024-12, Vol.81, p.103552, Article 103552

2024

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Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

The Journal of biological chemistry, 2022-08, Vol.298 (8), p.102159-102159, Article 102159

2022

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Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α- N -Acetylglucosamine-6-Sulfatase in Neonatal Mice

Molecular pharmaceutics, 2021-01, Vol.18 (1), p.214-227

2021

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Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Proceedings of the National Academy of Sciences - PNAS, 2014-10, Vol.111 (41), p.14870-14875

2014

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Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells

Molecular therapy. Nucleic acids, 2024-06, Vol.35 (2), p.102220, Article 102220

2024

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Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.185-192

2021

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Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts

Biochemical journal, 2014-03, Vol.458 (2), p.281-289

2014

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Biochemical characterization of fluorescent-labeled recombinant human alpha-l-iduronidase in vitro

Biotechnology and applied biochemistry, 2011-11, Vol.58 (6), p.391-396

2011

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Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

Pediatric research, 2013-12, Vol.74 (6), p.712-720

2013

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A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I

Molecular therapy. Methods & clinical development, 2015-01, Vol.2, p.14068-14068, Article 14068

2015

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Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B mice

Behavioural brain research, 2016-10, Vol.312, p.265-271

2016

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Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I

Experimental neurology, 2015-11, Vol.273, p.1-10

2015

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An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations

American journal of medical genetics, 2003-08, Vol.121A (1), p.69-74

2003

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Discovery of antimicrobial agent targeting tryptophan synthase

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-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

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

Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I

Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy

A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I

Neuropathology of murine Sanfilippo D syndrome

Generation of an infantile GM1 gangliosidosis induced pluripotent stem cell line (CHOCi005-A) for disease modeling and therapeutic testing

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation

Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α- N -Acetylglucosamine-6-Sulfatase in Neonatal Mice

Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells

Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome

Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts

Biochemical characterization of fluorescent-labeled recombinant human alpha-l-iduronidase in vitro

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients

A novel, long-lived, and highly engraftable immunodeficient mouse model of mucopolysaccharidosis type I

Behavioral deficits and cholinergic pathway abnormalities in male Sanfilippo B mice

Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations

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