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Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo

PLoS pathogens, 2021-05, Vol.17 (5), p.e1009465-e1009465

2021

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Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

The Journal of biological chemistry, 2009-08, Vol.284 (35), p.23502-23516

2009

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Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

Human mutation, 2021-05, Vol.42 (5), p.614-625

2021

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CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

Frontiers in molecular biosciences, 2020-11, Vol.7, p.559804-559804

2020

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Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

Journal of human genetics, 2020-03, Vol.65 (3), p.345-349

2020

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Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

The Journal of biological chemistry, 2007-03, Vol.282 (12), p.9150-9161

2007

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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

Pediatrics (Evanston), 2006-11, Vol.118 (5), p.e1550

2006

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USP8 inhibition regulates autophagy flux and controls Salmonella infection

Frontiers in cellular and infection microbiology, 2023-03, Vol.13, p.1070271-1070271

2023

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Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

Neurobiology of disease, 2014-06, Vol.66, p.92-103

2014

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Chronic kidney disease categories and renal–cardiovascular outcomes in type 2 diabetes without prevalent cardiovascular disease: a prospective cohort study (JDDM25)

Diabetologia, 2012-07, Vol.55 (7), p.1911-1918

2012

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Use of Ambroxol as Therapy for Gaucher Disease

JAMA network open, 2023-06, Vol.6 (6), p.e2319364-e2319364

2023

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Japanese men have larger areas of visceral adipose tissue than Caucasian men in the same levels of waist circumference in a population-based study

International Journal of Obesity, 2006-07, Vol.30 (7), p.1163-1165

2006

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Developing therapeutic approaches for metachromatic leukodystrophy

Drug design, development and therapy, 2013-01, Vol.7 (default), p.729-745

2013

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Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome

Brain & development (Tokyo. 1979), 2023-10, Vol.45 (9), p.495-504

2023

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Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1

Frontiers in pharmacology, 2021-06, Vol.12, p.667361-667361

2021

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Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

PloS one, 2011-12, Vol.6 (12), p.e29504-e29504

2011

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Safety and effectiveness of ipragliflozin in Japanese patients with type 2 diabetes mellitus and impaired renal function: subgroup analysis of a 3-year post-marketing surveillance study (STELLA-LONG TERM)

Sakharnyĭ diabet, 2021-07, Vol.24 (2), p.141-155

2021

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Clinical neurogenetics: neuropathic lysosomal storage disorders

Neurologic clinics, 2013-11, Vol.31 (4), p.1051-1071

2013

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Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease

Journal of neuroscience research, 2016-11, Vol.94 (11), p.1231-1245

2016

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Less Subclinical Atherosclerosis in Japanese Men in Japan than in White Men in the United States in the Post–World War II Birth Cohort

American journal of epidemiology, 2007-03, Vol.165 (6), p.617-624

2007

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Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

Journal of Child Neurology, 2019-05, Vol.34 (6), p.339-358

Maegawa, Gustavo H.B.

2019

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Isofagomine Induced Stabilization of Glucocerebrosidase

Chembiochem : a European journal of chemical biology, 2008-11, Vol.9 (16), p.2643-2649

2008

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Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.317-326

2024

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Cardiovascular disease management in people with diabetes outside North America and Western Europe in 2006 and 2015

Diabetic medicine, 2019-07, Vol.36 (7), p.878-887

2019

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Peptide and Protein Library Screening Defines Optimal Substrate Motifs for AKT/PKB

The Journal of biological chemistry, 2000-11, Vol.275 (46), p.36108-36115

2000

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Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges

Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease

Pyrimethamine as a Potential Pharmacological Chaperone for Late-onset Forms of GM2 Gangliosidosis

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported

USP8 inhibition regulates autophagy flux and controls Salmonella infection

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

Chronic kidney disease categories and renal–cardiovascular outcomes in type 2 diabetes without prevalent cardiovascular disease: a prospective cohort study (JDDM25)

Use of Ambroxol as Therapy for Gaucher Disease

Japanese men have larger areas of visceral adipose tissue than Caucasian men in the same levels of waist circumference in a population-based study

Developing therapeutic approaches for metachromatic leukodystrophy

Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome

Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

Safety and effectiveness of ipragliflozin in Japanese patients with type 2 diabetes mellitus and impaired renal function: subgroup analysis of a 3-year post-marketing surveillance study (STELLA-LONG TERM)

Clinical neurogenetics: neuropathic lysosomal storage disorders

Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease

Less Subclinical Atherosclerosis in Japanese Men in Japan than in White Men in the United States in the Post–World War II Birth Cohort

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

Isofagomine Induced Stabilization of Glucocerebrosidase

Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Cardiovascular disease management in people with diabetes outside North America and Western Europe in 2006 and 2015

Peptide and Protein Library Screening Defines Optimal Substrate Motifs for AKT/PKB

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