The Npc2 mouse signifies pathological changes comparable to human Niemann-Pick type C2 disease

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

(2022) Julia Yerger et al.   Biology Open

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

(2021) Alessio Colombo et al.   Nature Communications

The Unique Phenotype of Lipid-Laden Macrophages

(2021) Marco van Eijk et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Purkinje cell axonal swellings enhance action potential fidelity and cerebellar function

(2021) Daneck Lang-Ouellette et al.   Nature Communications

Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation

(2021) Kristina Dominko et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Gene therapy to the blood‐brain barrier with resulting protein secretion as a strategy for treatment of Niemann Picks type C2 disease

(2020) Eva Hede et al.   JOURNAL OF NEUROCHEMISTRY

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

(2020) Marc C. Patterson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

(2020) M.J. Yañez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C

(2019) Larisa Kavetsky et al.   Scientific Reports

Niemann-Pick C2 protein regulates sterol transport between plasma membrane and late endosomes in human fibroblasts

(2018) Zane Berzina et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Genetics and Therapies for GM2 Gangliosidosis

(2018) Maria Begona Cachon-Gonzalez et al.   CURRENT GENE THERAPY

Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc2

(2018) Sandra Markmann et al.   EXPERIMENTAL NEUROLOGY

Microglia activation in Niemann–Pick disease, type C1 is amendable to therapeutic intervention

(2018) Antony Cougnoux et al.   HUMAN MOLECULAR GENETICS

Consensus clinical management guidelines for Niemann-Pick disease type C

(2018) Tarekegn Geberhiwot et al.   Orphanet Journal of Rare Diseases

Microglia in neurodegeneration

(2018) Suzanne Hickman et al.   NATURE NEUROSCIENCE

Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis

(2018) Alan Mejia Maza et al.   BRAIN PATHOLOGY

Gut Microbiota Regulate Motor Deficits and Neuroinflammation in a Model of Parkinson’s Disease

(2016) Timothy R. Sampson et al.   CELL

Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools

(2016) Matthis Synofzik et al.   JOURNAL OF NEUROLOGY

Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2

(2016) Xiaochun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target

(2016) A Cougnoux et al.   Cell Death & Disease

Antibiotic-induced perturbations in gut microbial diversity influences neuro-inflammation and amyloidosis in a murine model of Alzheimer’s disease

(2016) Myles R. Minter et al.   Scientific Reports

Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

(2015) Jackie Imrie et al.   BMC Neurology

Purkinje Cell Pathology and Loss in Multiple Sclerosis Cerebellum

(2014) Juliana Redondo et al.   BRAIN PATHOLOGY

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years

(2014) Helena Jahnova et al.   Orphanet Journal of Rare Diseases

Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann–Pick type C disease

(2013) Charina M. Ramirez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1

(2013) Stephanie M. Cologna et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Differing rates of cholesterol absorption among inbred mouse strains yield differing levels of HDL-cholesterol

(2013) Timothy J. Sontag et al.   JOURNAL OF LIPID RESEARCH

Pulmonary Abnormalities in Animal Models Due to Niemann-Pick Type C1 (NPC1) or C2 (NPC2) Disease

(2013) Blair R. Roszell et al.   PLoS One

Spermatozoa from mice deficient in Niemann-Pick disease type C2 (NPC2) protein have defective cholesterol content and reduced in vitro fertilising ability

(2013) Dolores Busso et al.   REPRODUCTION FERTILITY AND DEVELOPMENT

Subcortical Volumetric Reductions in Adult Niemann-Pick Disease Type C: A Cross-Sectional Study

(2012) M. Walterfang et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C

(2012) Manuel E. Lopez et al.   HUMAN MOLECULAR GENETICS

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

(2012) Johannes Schindelin et al.   NATURE METHODS

Peripheral Nervous System Neuropathology and Progressive Sensory Impairments in a Mouse Model of Mucopolysaccharidosis IIIB

(2012) Haiyan Fu et al.   PLoS One

Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C

(2011) Sharon Zhou et al.   AMERICAN JOURNAL OF PATHOLOGY

Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro

(2011) Kyle B. Peake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder

(2011) M. E. Lopez et al.   JOURNAL OF NEUROSCIENCE

Loss of Niemann-Pick C1 or C2 Protein Results in Similar Biochemical Changes Suggesting That These Proteins Function in a Common Lysosomal Pathway

(2011) Sayali S. Dixit et al.   PLoS One

Protein Replacement Therapy Partially Corrects the Cholesterol-Storage Phenotype in a Mouse Model of Niemann-Pick Type C2 Disease

(2011) Gitte Krogh Nielsen et al.   PLoS One

Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress

(2011) Mary C. Vázquez et al.   PLoS One

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

The clinical spectrum of fetal Niemann-Pick type C

(2009) Ronen Spiegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis

(2009) M Griese et al.   CLINICAL GENETICS

Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration

(2009) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice

(2009) D. Busso et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains

(2009) Elan D. Louis et al.   MOVEMENT DISORDERS

Foamy macrophages and the progression of the human tuberculosis granuloma

(2009) David G Russell et al.   NATURE IMMUNOLOGY

Calbindin-D28k is a more reliable marker of human Purkinje cells than standard Nissl stains: A stereological experiment

(2007) Elizabeth R. Whitney et al.   JOURNAL OF NEUROSCIENCE METHODS