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Autophagy, lipophagy and lysosomal lipid storage disorders

Biochimica et biophysica acta, 2016-04, Vol.1861 (4), p.269-284

2016

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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1229-1239

2019

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Lysosomal exocytosis and lipid storage disorders

Journal of lipid research, 2014-06, Vol.55 (6), p.995-1009

2014

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Phospholipid Flippase Activities and Substrate Specificities of Human Type IV P-type ATPases Localized to the Plasma Membrane

The Journal of biological chemistry, 2014-11, Vol.289 (48), p.33543-33556

2014

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Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5 ABCG8

International journal of molecular sciences, 2021-03, Vol.22 (5)

2021

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Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin‐Dorfman mutations

International journal of dermatology, 2024-09, Vol.63 (9), p.1269-1271

2024

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A review of fatty acid oxidation disorder mouse models

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108351-108351, Article 108351

2024

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Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism

Cell reports (Cambridge), 2016-02, Vol.14 (5), p.991-999

2016

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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Molecular genetics and metabolism, 2016-11, Vol.119 (3), p.223-231

2016

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Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5

Journal of dermatological science, 2018-12, Vol.92 (3), p.245-253

2018

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Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion

Stem cells (Dayton, Ohio), 2013-07, Vol.31 (7), p.1287-1297

2013

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Murine deficiency of peroxisomal l-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis

Cellular and molecular life sciences : CMLS, 2021-07, Vol.78 (14), p.5631-5646

2021

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Lipolysis and lipophagy in lipid storage myopathies

Biochimica et biophysica acta, 2016-07, Vol.1862 (7), p.1367-1373

2016

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Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism

International journal of molecular sciences, 2021-04, Vol.22 (7), p.3799

2021

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Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

PloS one, 2016-02, Vol.11 (2), p.e0147818-e0147818

2016

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Clinical and genetic features of sitosterolemia in Japan

Clinica chimica acta, 2022-05, Vol.530, p.39-44

2022

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Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Annual review of genomics and human genetics, 2014-01, Vol.15 (1), p.173-194

2014

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Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

Neuromuscular disorders : NMD, 2017-05, Vol.27 (5), p.481-486

2017

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Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2017-10, Vol.1862 (10), p.1233-1241

2017

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review

Medicine (Baltimore), 2019-04, Vol.98 (15), p.e15013

2019

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The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function

Biochimica et biophysica acta, 2014-03, Vol.1841 (3), p.409-415

2014

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Desmosterol and DHCR24: Unexpected new directions for a terminal step in cholesterol synthesis

Progress in lipid research, 2013-10, Vol.52 (4), p.666-680

2013

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Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouse

Journal of lipid research, 2017-01, Vol.58 (1), p.196-207

2017

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Cerebral involvement in sitosterolemia

Lipids in health and disease, 2024-07, Vol.23 (1), p.222-12, Article 222

2024

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Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

The journal of clinical endocrinology and metabolism, 2019-09, Vol.104 (9), p.3610-3613

2019

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Autophagy, lipophagy and lysosomal lipid storage disorders

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

Lysosomal exocytosis and lipid storage disorders

Phospholipid Flippase Activities and Substrate Specificities of Human Type IV P-type ATPases Localized to the Plasma Membrane

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5 ABCG8

Leukocytes containing lipid inclusions in congenital ichthyosis without classical Chanarin‐Dorfman mutations

A review of fatty acid oxidation disorder mouse models

Inborn Errors of Long-Chain Fatty Acid β-Oxidation Link Neural Stem Cell Self-Renewal to Autism

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Molecular mechanism of the ichthyosis pathology of Chanarin–Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5

Induced Pluripotent Stem Cells with a Mitochondrial DNA Deletion

Murine deficiency of peroxisomal l-bifunctional protein (EHHADH) causes medium-chain 3-hydroxydicarboxylic aciduria and perturbs hepatic cholesterol homeostasis

Lipolysis and lipophagy in lipid storage myopathies

Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Clinical and genetic features of sitosterolemia in Japan

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond

Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review

The important role of epidermal triacylglycerol metabolism for maintenance of the skin permeability barrier function

Desmosterol and DHCR24: Unexpected new directions for a terminal step in cholesterol synthesis

Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase-deficient mouse

Cerebral involvement in sitosterolemia

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

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