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  1. Article

    Open Access

    Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

    Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential ch...

    Ayelet Vardi, Amir Pri-Or, Noa Wigoda, Yulia Grishchuk… in Orphanet Journal of Rare Diseases (2021)

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