CLN3 is required for the clearance of glycerophosphodiesters from lysosomes

Neurofilament light chain levels correlate with clinical measures in CLN3 disease

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Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

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Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

(2019) Carolin Schmidtke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The CLN3 gene and protein: What we know

(2019) Myriam Mirza et al.   Molecular Genetics & Genomic Medicine

Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses

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Lysosomes as dynamic regulators of cell and organismal homeostasis

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Lysosomes: Signaling Hubs for Metabolic Sensing and Longevity

(2019) Marzia Savini et al.   TRENDS IN CELL BIOLOGY

Lysosomal Dysfunction at the Centre of Parkinson’s Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis

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The brain lipidome in neurodegenerative lysosomal storage disorders

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Endo-lysosomal dysfunction: a converging mechanism in neurodegenerative diseases

(2018) Chao Wang et al.   CURRENT OPINION IN NEUROBIOLOGY

Neuronal lysosomes

(2018) Shawn M. Ferguson   NEUROSCIENCE LETTERS

NUFIP1 is a ribosome receptor for starvation-induced ribophagy

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Engineered Production of Short-Chain Acyl-Coenzyme A Esters in Saccharomyces cerevisiae

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The PRIDE database and related tools and resources in 2019: improving support for quantification data

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Lysosomal storage diseases

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Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes

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Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression

(2017) Emelie Perland et al.   Open Biology

The Lysosome as a Regulatory Hub

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Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis

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Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender

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Ion mobility and tandem mass spectrometry of phosphatidylglycerol and bis(monoacylglycerol) phosphate (BMP)

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Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

CFM-ID: a web server for annotation, spectrum prediction and metabolite identification from tandem mass spectra

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The emerging physiological roles of the glycerophosphodiesterase family

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

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Development of a lipid profiling system using reverse-phase liquid chromatography coupled to high-resolution mass spectrometry with rapid polarity switching and an automated lipid identification software

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Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Genetic Screens in Human Cells Using the CRISPR-Cas9 System

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The role of reporting standards for metabolite annotation and identification in metabolomic studies

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Serum Lipidomics Profiling Using LC–MS and High-Energy Collisional Dissociation Fragmentation: Focus on Triglyceride Detection and Characterization

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BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution

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The Glycerophospho Metabolome and Its Influence on Amino Acid Homeostasis Revealed by Brain Metabolomics of GDE1(−/−) Mice

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Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

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Precise and global identification of phospholipid molecular species by an Orbitrap mass spectrometer and automated search engine Lipid Search

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Lysosomal disorders: From storage to cellular damage

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