Research & Literature

Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring.

Boeszoermenyi A, Nagy HM, Arthanari H, et al.

The Journal of biological chemistry 2015; (290(44)):26361-72 doi:10.1074/jbc.M115.682203.

Chanarin-Dorfman syndrome: A case report and review of the literature.

Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology 2015; (16(3-4)):142-4.

Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.

Ünlüsoy-Aksu A, Sarı S, Eğritaş-Gürkan Ö, Dalgıç B

The Turkish journal of pediatrics 2015; (57(3)):300-3.

Skin Barrier Development Depends on CGI-58 Protein Expression during Late-Stage Keratinocyte Differentiation.

Grond S, Radner FPW, Eichmann TO, et al.

The Journal of investigative dermatology 2017; (137(2)):403-413 doi:10.1016/j.jid.2016.09.025.

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

Hirabayashi T, Anjo T, Kaneko A, et al.

Nature communications 2017; (8()):14609 doi:10.1038/ncomms14609.

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Pennisi EM, Arca M, Bertini E, et al.

Orphanet journal of rare diseases 2017; (12(1)):90 doi:10.1186/s13023-017-0646-9.

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

Brown AL, Mark Brown J

Biochimica et biophysica acta. Molecular and cell biology of lipids 2017; (1862(10 Pt B)):1233-1241 doi:10.1016/j.bbalip.2017.07.016.

Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.

Durdu M, Missaglia S, Moro L, Tavian D

BMC medical genetics 2018; (19(1)):88 doi:10.1186/s12881-018-0610-0.

ABHD5 stimulates PNPLA1-mediated ω-O-acylceramide biosynthesis essential for a functional skin permeability barrier.

Kien B, Grond S, Haemmerle G, et al.

Journal of lipid research 2018; (59(12)):2360-2367 doi:10.1194/jlr.M089771.

Chanarin-Dorfman syndrome.

Kalyon S, Gökden Y, Demirel N, et al.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2019; (30(1)):105-108 doi:10.5152/tjg.2018.18014.

Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.

Missaglia S, Coleman RA, Mordente A, Tavian D

Cells 2019; (8(2)) doi:10.3390/cells8020187.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.

Louhichi N, Bahloul E, Marrakchi S, et al.

Orphanet journal of rare diseases 2019; (14(1)):112 doi:10.1186/s13023-019-1095-4.

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

Eskiocak AH, Missaglia S, Moro L, et al.

Lipids in health and disease 2019; (18(1)):232 doi:10.1186/s12944-019-1181-6.

CGI-58: Versatile Regulator of Intracellular Lipid Droplet Homeostasis.

Yu L, Li Y, Grisé A, Wang H

Advances in experimental medicine and biology 2020; (1276()):197-222 doi:10.1007/978-981-15-6082-8_13.

Chanarin-Dorfman Syndrome: A comprehensive review.

Cakmak E, Bagci G

Liver international : official journal of the International Association for the Study of the Liver 2021; (41(5)):905-914 doi:10.1111/liv.14794.

Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.

Safavi M, Vasei M, Motamed F

Fetal and pediatric pathology 2022; (41(3)):526-528 doi:10.1080/15513815.2020.1831663.

Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.

Tavian D, Durdu M, Angelini C, et al.

European journal of translational myology 2021; (31(2)) doi:10.4081/ejtm.2021.9796.

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Kopp J, Has C, Hotz A, et al.

Genes 2021; (12(8)) doi:10.3390/genes12081164.

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient-reported outcome measures.

Venema A, Peeks F, de Bruijn-van der Veen M, et al.

JIMD reports 2022; (63(1)):29-40 doi:10.1002/jmd2.12253.

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis.

Liang B, Huang H, Zhang J, et al.

Frontiers in genetics 2022; (13()):847321 doi:10.3389/fgene.2022.847321.

Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Quelhas da Costa R, Laranjeira F, Duarte Ribeiro I, et al.

GE Portuguese journal of gastroenterology 2022; (29(4)):284-290 doi:10.1159/000517103.

ABHD5-A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions.

Schratter M, Lass A, Radner FPW

Metabolites 2022; (12(11)) doi:10.3390/metabo12111015.

Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.

Luu Y, Pithadia DJ, Teng J, Khuu P

Pediatric dermatology 2023; (40(5)):879-881 doi:10.1111/pde.15258.

An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis.

Habash N, Wang Y, Morava E, Ibrahim SH

JPGN reports 2021; (2(4)):e137 doi:10.1097/PG9.0000000000000137.

Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.

Durmazer E, Demir M, Onay H, Gunsar F

Journal of clinical lipidology 2024; (18(1)):e125-e128 doi:10.1016/j.jacl.2023.10.003.

Two novel heterozygous exonic deletions lead to Chanarin-Dorfman syndrome in a patient with congenital ichthyosis, sensorineural hearing loss, and liver dysfunction.

Zoullas S, Morel D, Zafeer F, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63481 doi:10.1002/ajmg.a.63481.

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.

Karazi W, Coppers J, Maas D, et al.

Journal of neuromuscular diseases 2024; (11(1)):103-116 doi:10.3233/JND-230027.

Dilated cardiomyopathy caused by mutation of the PNPLA2 gene: a case report and literature review.

Wang S, Wu S, Peng D

Frontiers in genetics 2024; (15()):1415156 doi:10.3389/fgene.2024.1415156.

Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman-Chanarin Syndrome.

Anton N, Dohotariu FC, Pîrvulescu RA, et al.

Biomedicines 2024; (12(10)) doi:10.3390/biomedicines12102164.

Experiences of living with GSD5 (McArdle) disease: challenges and strategies. A qualitative study in the Netherlands.

van Haaren-Pater R, Karazi W, Maas D, et al.

Disability and rehabilitation 2025; (47(14)):3649-3656 doi:10.1080/09638288.2024.2424439.

Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease.

Milani S, Ashrafzadeh K

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2024; (22(12)):961-963 doi:10.6002/ect.2024.0280.

Jordans' anomaly in Chanarin-Dorfman syndrome.

Sánchez-Cortés J, Gabaldó-Barrios X

Advances in laboratory medicine 2025; (6(1)):118-121 doi:10.1515/almed-2024-0159.

Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.

Schratter M, Holubek D, Koeffler L, et al.

Journal of lipid research 2025; (66(9)):100875 doi:10.1016/j.jlr.2025.100875.

Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome.

Noman K, Tridimas A, Lilleker JB, et al.

Molecular genetics and metabolism reports 2025; (45()):101265 doi:10.1016/j.ymgmr.2025.101265.

[Analysis of genetic variant and phenotype of a child with Chanarin-Dorfman syndrome].

Zhang M, Zheng K, Shen K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025; (42(12)):1477-1481 doi:10.3760/cma.j.cn511374-20250731-00470.