Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C

Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in Npc1-Null Cells

(2020) Sanzana Hoque et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Dynein Adaptor RILP Controls Neuronal Autophagosome Biogenesis, Transport, and Clearance

(2020) Noopur V. Khobrekar et al.   DEVELOPMENTAL CELL

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

(2019) André R. A. Marques et al.   JOURNAL OF CELL SCIENCE

Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity

(2019) Tamar Farfel-Becker et al.   Cell Reports

ER–lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann–Pick type C

(2019) Chun-Yan Lim et al.   NATURE CELL BIOLOGY

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

(2019) Mikael B.L. Winkler et al.   CELL

Sensing of nutrients by CPT1C regulates late endosome/lysosome anterograde transport and axon growth

(2019) Marta Palomo-Guerrero et al.   eLife

Lysosomes and Brain Health

(2018) Jaiprakash Sharma et al.   Annual Review of Neuroscience

Changes in Cholesterol Level Alter Integrin Sequestration in Raft-Mimicking Lipid Mixtures

(2018) Yifan Ge et al.   BIOPHYSICAL JOURNAL

Live Observation of Two Parallel Membrane Degradation Pathways at Axon Terminals

(2018) Eugene Jennifer Jin et al.   CURRENT BIOLOGY

Characterization of LAMP1-labeled nondegradative lysosomal and endocytic compartments in neurons

(2018) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

Degradation of dendritic cargos requires Rab7-dependent transport to somatic lysosomes

(2018) Chan Choo Yap et al.   JOURNAL OF CELL BIOLOGY

LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss

(2018) Brittney L Gurda et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Neuronal lysosomes

(2018) Shawn M. Ferguson   NEUROSCIENCE LETTERS

Autophagy Is a Tolerance-Avoidance Mechanism that Modulates TCR-Mediated Signaling and Cell Metabolism to Prevent Induction of T Cell Anergy

(2018) Enric Mocholi et al.   Cell Reports

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Axonal dystrophy in the brain of mice with Sanfilippo syndrome

(2017) Helen Beard et al.   EXPERIMENTAL NEUROLOGY

Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease

(2017) Hila Zigdon et al.   FEBS LETTERS

Impaired JIP3-dependent axonal lysosome transport promotes amyloid plaque pathology

(2017) Swetha Gowrishankar et al.   JOURNAL OF CELL BIOLOGY

A Ragulator–BORC interaction controls lysosome positioning in response to amino acid availability

(2017) Jing Pu et al.   JOURNAL OF CELL BIOLOGY

LAMTOR/Ragulator is a negative regulator of Arl8b- and BORC-dependent late endosomal positioning

(2017) Przemyslaw A. Filipek et al.   JOURNAL OF CELL BIOLOGY

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Releasing Syntaphilin Removes Stressed Mitochondria from Axons Independent of Mitophagy under Pathophysiological Conditions

(2017) Mei-Yao Lin et al.   NEURON

BORC/kinesin-1 ensemble drives polarized transport of lysosomes into the axon

(2017) Ginny G. Farías et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Super-resolution microscopy reveals functional organization of dopamine transporters into cholesterol and neuronal activity-dependent nanodomains

(2017) Troels Rahbek-Clemmensen et al.   Nature Communications

TFEB regulates lysosomal positioning by modulating TMEM55B expression and JIP4 recruitment to lysosomes

(2017) Rose Willett et al.   Nature Communications

Impaired retrograde transport of axonal autophagosomes contributes to autophagic stress in Alzheimer’s disease neurons

(2017) Prasad Tammineni et al.   eLife

Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies

(2017) Mansour Haidar et al.   Frontiers in Molecular Neuroscience

Autophagy flux in CA1 neurons of Alzheimer hippocampus: Increased induction overburdens failing lysosomes to propel neuritic dystrophy

(2016) Matteo Bordi et al.   Autophagy

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

(2016) Wendy Westbroek et al.   Disease Models & Mechanisms

Facilitation of axon regeneration by enhancing mitochondrial transport and rescuing energy deficits

(2016) Bing Zhou et al.   JOURNAL OF CELL BIOLOGY

Mechanisms and functions of lysosome positioning

(2016) Jing Pu et al.   JOURNAL OF CELL SCIENCE

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

Retrograde Axonal Degeneration in Parkinson Disease

(2016) Patricia Tagliaferro et al.   Journal of Parkinsons Disease

Bridging the age spectrum of neurodegenerative storage diseases

(2015) Barry Boland et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

BORC, a Multisubunit Complex that Regulates Lysosome Positioning

(2015) Jing Pu et al.   DEVELOPMENTAL CELL

Axonal autophagosomes recruit dynein for retrograde transport through fusion with late endosomes

(2015) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

Complementary probes reveal that phosphatidylserine is required for the proper transbilayer distribution of cholesterol

(2015) M. Maekawa et al.   JOURNAL OF CELL SCIENCE

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

Massive accumulation of luminal protease-deficient axonal lysosomes at Alzheimer’s disease amyloid plaques

(2015) Swetha Gowrishankar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Regulation of Autophagosome Dynamics by Huntingtin and HAP1 Is Disrupted by Expression of Mutant Huntingtin, Leading to Defective Cargo Degradation

(2014) Y. C. Wong et al.   JOURNAL OF NEUROSCIENCE

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Niemann-Pick disease type C symptomatology: an expert-based clinical description

(2013) Eugen Mengel et al.   Orphanet Journal of Rare Diseases

Autophagy in axonal and dendritic degeneration

(2013) Yi Yang et al.   TRENDS IN NEUROSCIENCES

Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease

(2013) Sovan Sarkar et al.   Cell Reports

Autophagosome assembly and cargo capture in the distal axon

(2012) Sandra Maday et al.   Autophagy

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

(2012) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Normalization of Cholesterol Homeostasis by 2-Hydroxypropyl-β-cyclodextrin in Neurons and Glia from Niemann-Pick C1 (NPC1)-deficient Mice

(2012) Kyle B. Peake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagosomes initiate distally and mature during transport toward the cell soma in primary neurons

(2012) Sandra Maday et al.   JOURNAL OF CELL BIOLOGY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Arl8 and SKIP Act Together to Link Lysosomes to Kinesin-1

(2011) Cláudia Rosa-Ferreira et al.   DEVELOPMENTAL CELL

Lysosomal Proteolysis Inhibition Selectively Disrupts Axonal Transport of Degradative Organelles and Causes an Alzheimer's-Like Axonal Dystrophy

(2011) S. Lee et al.   JOURNAL OF NEUROSCIENCE

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann–Pick type C1 mice

(2011) Sarah N.R. Pressey et al.   NEUROBIOLOGY OF DISEASE

Phase Separation in Biological Membranes: Integration of Theory and Experiment

(2010) Elliot L. Elson et al.   Annual Review of Biophysics

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy

(2010) Steven U. Walkley et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

(2010) Alessandro Fraldi et al.   EMBO JOURNAL

Macroautophagy Is Not Directly Involved in the Metabolism of Amyloid Precursor Protein

(2010) Barry Boland et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

(2010) Martin D Witte et al.   Nature Chemical Biology

Snapin-Regulated Late Endosomal Transport Is Critical for Efficient Autophagy-Lysosomal Function in Neurons

(2010) Qian Cai et al.   NEURON

Molecular Motors in Neurons: Transport Mechanisms and Roles in Brain Function, Development, and Disease

(2010) Nobutaka Hirokawa et al.   NEURON

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cyclodextrin Induces Calcium-Dependent Lysosomal Exocytosis

(2010) Fannie W. Chen et al.   PLoS One

Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7–RILP–p150Gluedand late endosome positioning

(2009) Nuno Rocha et al.   JOURNAL OF CELL BIOLOGY

Neuropathology of the Mcoln1−/− Knockout Mouse Model of Mucolipidosis Type IV

(2009) Matthew C. Micsenyi et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Docking of Axonal Mitochondria by Syntaphilin Controls Their Mobility and Affects Short-Term Facilitation

(2008) Jian-Sheng Kang et al.   CELL

Dynein-dependent Movement of Autophagosomes Mediates Efficient Encounters with Lysosomes

(2008) Shunsuke Kimura et al.   CELL STRUCTURE AND FUNCTION

Autophagy Induction and Autophagosome Clearance in Neurons: Relationship to Autophagic Pathology in Alzheimer's Disease

(2008) B. Boland et al.   JOURNAL OF NEUROSCIENCE

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE