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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

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

Fig. 2

Pathological pathways in MLIV. Loss of the lysosomal channel TRPML1 leads to impaired lysosome function, which in turn affects autophagy, mitochondria including apolipoproteins and mTOR signaling. MLIV patients suffer from neuroinflammation, neuronal malfunction and hypomyelination, all eventually leads to neurodegeneration late in the disease course. For further details, see text

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172