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HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis

Scientific reports, 2023-10, Vol.13 (1), p.18734-18734, Article 18734

2023

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Mucopolysaccharidosis-Plus Syndrome

International journal of molecular sciences, 2020-01, Vol.21 (2), p.421

2020

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Identification of CUL4A-DDB1-WDFY1 as an E3 ubiquitin ligase complex involved in initiation of lysophagy

Cell reports (Cambridge), 2022-09, Vol.40 (11), p.111349-111349, Article 111349

2022

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Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

Journal of medical genetics, 2020-04, Vol.57 (4), p.245-253

2020

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Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome

International journal of molecular sciences, 2022-05, Vol.23 (10), p.5851

2022

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Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type

Journal of human genetics, 2018-06, Vol.63 (6), p.699-706

2018

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Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression

Brain & development (Tokyo. 1979), 2021-09, Vol.43 (8), p.867-872

2021

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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5647

2023

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Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan

PloS one, 2020-03, Vol.15 (3), p.e0230156-e0230156

2020

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Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

Gene, 2014-01, Vol.534 (2), p.144-154

2014

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Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Genes, 2023-08, Vol.14 (8), p.1581

2023

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Scientific reports, 2017-06, Vol.7 (1), p.3552-11, Article 3552

2017

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A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Human genome variation, 2022-07, Vol.9 (1), p.26-26, Article 26

2022

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Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

The Journal of cell biology, 2015-01, Vol.208 (2), p.171-180

2015

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Mucolipidosis II and III alpha beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation

Journal of human genetics, 2009-03, Vol.54 (3), p.145-151

2009

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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

Human genome variation, 2023-10, Vol.10 (1), p.27-27, Article 27

2023

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Novel neuroblastoma amplified sequence ( NBAS ) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Human genome variation, 2019, Vol.6 (1), p.2-2, Article 2

2019

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Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy

The Journal of biological chemistry, 2024-03, Vol.300 (3), p.105743-105743, Article 105743

2024

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Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

Molecular genetics and metabolism, 2009-12, Vol.98 (4), p.393-399

2009

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Changes in serum antibody titers after vaccination for COVID-19 and evaluation of post-vaccination health conditions

KAWASAKI MEDICAL JOURNAL, 2022, Vol.48, p.73-85

2022

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Challenge of phenotype estimation for optimal treatment of Krabbe disease

Journal of neuroscience research, 2016-11, Vol.94 (11), p.1025-1030

2016

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Lysophagy: A Method for Monitoring Lysosomal Rupture Followed by Autophagy-Dependent Recovery

Methods in molecular biology (Clifton, N.J.), 2017, Vol.1594, p.141

2017

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An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism

Brain & development (Tokyo. 1979), 2013-05, Vol.35 (5), p.462-465

2013

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SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

Journal of human genetics, 2011-12, Vol.56 (12), p.846-851

2011

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A brain-enriched Drp1 isoform associates with lysosomes, late endosomes, and the plasma membrane

The Journal of biological chemistry, 2018-07, Vol.293 (30), p.11809-11822

2018

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HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis

Mucopolysaccharidosis-Plus Syndrome

Identification of CUL4A-DDB1-WDFY1 as an E3 ubiquitin ligase complex involved in initiation of lysophagy

Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex

Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome

Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type

Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines

Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

Mucolipidosis II and III alpha beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

Novel neuroblastoma amplified sequence ( NBAS ) mutations in a Japanese boy with fever-triggered recurrent acute liver failure

Impaired lysosomal acidity maintenance in acid lipase-deficient cells leads to defective autophagy

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

Changes in serum antibody titers after vaccination for COVID-19 and evaluation of post-vaccination health conditions

Challenge of phenotype estimation for optimal treatment of Krabbe disease

Lysophagy: A Method for Monitoring Lysosomal Rupture Followed by Autophagy-Dependent Recovery

An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism

SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome

A brain-enriched Drp1 isoform associates with lysosomes, late endosomes, and the plasma membrane

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