Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts

Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes

(2011) Marielle Boonen et al.   MOLECULAR BIOLOGY OF THE CELL

Therapeutic approaches for neuronopathic lysosomal storage disorders

(2010) Raphael Schiffmann   JOURNAL OF INHERITED METABOLIC DISEASE

Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction

(2010) Hiroshi Kobayashi et al.   MOLECULAR GENETICS AND METABOLISM

Lysosomal degradation of membrane lipids

(2009) Thomas Kolter et al.   FEBS LETTERS

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

(2009) Takanobu Otomo et al.   JOURNAL OF HUMAN GENETICS

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

(2009) Takanobu Otomo et al.   MOLECULAR GENETICS AND METABOLISM

Sensors and regulators of intracellular pH

(2009) Joseph R. Casey et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mucolipidosis Type IV: The Effect of Increased Lysosomal pH on the Abnormal Lysosomal Storage

(2009) Aviram Kogot-Levin et al.   PEDIATRIC RESEARCH

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Regulation of the V-ATPase along the Endocytic Pathway Occurs through Reversible Subunit Association and Membrane Localization

(2008) Céline Lafourcade et al.   PLoS One