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White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology

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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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  2. Article

    Open Access

    Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV

    Mucolipidosis IV (MLIV) is caused by mutations in the gene MCOLN1. Patients with MLIV have severe neurologic deficits and very little is known about the brain pathology in this lysosomal disease. Using an accurat...

    Yulia Grishchuk, Sarmi Sri, Nikita Rudinskiy… in Acta Neuropathologica Communications (2014)

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