Research & Literature

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Ko AR, Jin DK, Cho SY, et al.

Molecular genetics and metabolism 2016; (117(4)):447-55.

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.

van Meel E, Kornfeld S

Human mutation 2016; (37(7)):623-6 doi:10.1002/humu.22993.

Enzyme-specific differences in mannose phosphorylation between GlcNAc-1-phosphotransferase αβ and γ subunit deficient zebrafish support cathepsin proteases as early mediators of mucolipidosis pathology.

Flanagan-Steet H, Matheny C, Petrey A, et al.

Biochimica et biophysica acta 2016; (1860(9)):1845-53.

Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells.

Di Lorenzo G, Velho RV, Winter D, et al.

Molecular & cellular proteomics : MCP 2018; (17(8)):1612-1626 doi:10.1074/mcp.RA118.000720.

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y, Ye J, Qiu WJ, et al.

Acta pharmacologica Sinica 2019; (40(2)):279-287 doi:10.1038/s41401-018-0023-9.

Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology.

Kasapkara ÇS, Akçaboy M, Kara Eroğlu F, Derinkuyu BE

Archives of rheumatology 2018; (33(1)):93-98 doi:10.5606/ArchRheumatol.2018.6262.

GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report.

Ho CC, Tsung LL, Liu KT, Poon WT

BMC medical genetics 2018; (19(1)):162 doi:10.1186/s12881-018-0679-5.

Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.

Khan MA, Hussain A, Sher G, et al.

Genetic testing and molecular biomarkers 2018; (22(9)):541-545 doi:10.1089/gtmb.2018.0123.

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, et al.

Clinical dysmorphology 2019; (28(1)):7-16 doi:10.1097/MCD.0000000000000249.

Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.

Kwak MJ, Lee HW, Kim YM, et al.

Annals of clinical and laboratory science 2018; (48(6)):785-789.

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

Ceroni JRM, Spolador GM, Bermeo DS, et al.

Skeletal radiology 2019; (48(8)):1201-1207 doi:10.1007/s00256-019-3159-x.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Velho RV, Harms FL, Danyukova T, et al.

Human mutation 2019; (40(7)):842-864 doi:10.1002/humu.23748.

Sleep-disordered breathing in children with mucolipidosis.

Tabone L, Caillaud C, Amaddeo A, et al.

American journal of medical genetics. Part A 2019; (179(7)):1196-1204 doi:10.1002/ajmg.a.61167.

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.

Sperb-Ludwig F, Alegra T, Velho RV, et al.

Genetics and molecular biology 2019; (42(3)):571-573 doi:10.1590/1678-4685-GMB-2018-0246.

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.

Alegra T, Sperb-Ludwig F, Guarany NR, et al.

Journal of pediatric genetics 2019; (8(4)):198-204 doi:10.1055/s-0039-1697605.

Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.

Yu F, Jin JY, He JQ, et al.

International journal of clinical and experimental pathology 2019; (12(8)):2981-2988.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Naumchik BM, Gupta A, Flanagan-Steet H, et al.

Cells 2020; (9(6)) doi:10.3390/cells9061411.

Differential diagnosis portfolio of a pediatric rheumatologist: eight cases, eight stories.

Çakan M, Karadağ ŞG, Ayaz NA

Clinical rheumatology 2021; (40(2)):769-774 doi:10.1007/s10067-020-05287-x.

A Rare Manifestation of Right Ventricular Dysfunction in an Adult Patient With Mucolipidosis Type III α/β.

Kashihara S, Ohtani K, Sato T, et al.

The Canadian journal of cardiology 2020; (36(12)):1978.e1-1978.e3 doi:10.1016/j.cjca.2020.07.239.

Mucolipidoses Overview: Past, Present, and Future.

Khan SA, Tomatsu SC

International journal of molecular sciences 2020; (21(18)) doi:10.3390/ijms21186812.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma.

Westermann LM, Fleischhauer L, Vogel J, et al.

Disease models & mechanisms 2020; (13(11)) doi:10.1242/dmm.046425.

Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity.

Doğan M, Eröz R, Terali K, et al.

Molecular biology reports 2021; (48(2)):1465-1474 doi:10.1007/s11033-021-06158-7.

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Dogterom EJ, Wagenmakers MAEM, Wilke M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(11)):2047-2056 doi:10.1038/s41436-021-01244-4.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.

Di Lorenzo G, Westermann LM, Yorgan TA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(12)):2369-2377 doi:10.1038/s41436-021-01285-9.

Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis).

Mao SJ, Zu YM, Dai YL, Zou CC

Frontiers in pediatrics 2022; (10()):852701 doi:10.3389/fped.2022.852701.

Structures of the mannose-6-phosphate pathway enzyme, GlcNAc-1-phosphotransferase.

Gorelik A, Illes K, Bui KH, Nagar B

Proceedings of the National Academy of Sciences of the United States of America 2022; (119(33)):e2203518119 doi:10.1073/pnas.2203518119.

Mucolipidosis: A mimicker of juvenile idiopathic arthritis.

Chopra S, Maheshwari A, Verma A, et al.

International journal of rheumatic diseases 2023; (26(7)):1363-1367 doi:10.1111/1756-185X.14620.

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report.

De Geer K, Mascianica K, Naess K, et al.

BMC ophthalmology 2023; (23(1)):394 doi:10.1186/s12886-023-03136-4.

[Importance of lysosomal storage diseases in rheumatology].

Aries C, Rudolph C, Muschol N

Zeitschrift fur Rheumatologie 2024; (83(5)):393-400 doi:10.1007/s00393-024-01521-y.

Multi-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism.

Badenetti L, Yu SH, Colonna MB, et al.

Molecular genetics and metabolism 2024; (143(3)):108596 doi:10.1016/j.ymgme.2024.108596.

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).

Hammoud M, Domínguez-Ruiz M, Assiri I, et al.

Genes 2024; (15(12)) doi:10.3390/genes15121515.

Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.

Erdem F, Canda E, Yazıcı H, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(12)):1286-1298 doi:10.1515/jpem-2025-0352.