Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

doi:10.1038/s10038-020-0797-8

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Article

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.

Journal of human genetics - 1 Nov 2020

Pasumarthi Divya, Gupta Neerja, Sheth Jayesh, Jain S Jamal Md Nurul, Rungsung Ikrormi, Kabra Madhulika, Ranganath Prajnya, Aggarwal Shagun, Phadke Shubha R, Girisha Katta M, Shukla Anju, Datar Chaitanya, Verma Ishwar C, Puri Ratna Dua, Bhavsar Riddhi, Mistry Mehul, Sankar V H, Gowrishankar Kalpana, Agrawal Divya, Nair Mohandas, Danda Sumita, Soni Jai Prakash, Dalal Ashwin

Abstract excerpt

Mucolipidosis (ML) (OMIM 607840 & 607838) is a rare autosomal recessive inherited disorder that occurs due to the deficiency of golgi enzyme uridine diphosphate (UDP)- N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) responsible for tagging mannose-6-phosphate for proper trafficking of lysosomal enzymes to lysosomes. Variants in GlcNAc-phosphotransferase (GNPTAB (α, β subunits) and GNPTG (γ...

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PMID: 32651481
DOI: 10.1038/s10038-020-0797-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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