Niemann–Pick disease
View article: Upregulation of sphingomyelin and <scp>ABCA8</scp> in response to <scp>TDP</scp> ‐43 pathology in amyotrophic lateral sclerosis brain
Upregulation of sphingomyelin and <span>ABCA8</span> in response to <span>TDP</span> ‐43 pathology in amyotrophic lateral sclerosis brain Open
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43) aggregation in the brain. Dyslipidemia is a c…
View article: Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature Open
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations. It is characterized by sphingomyelin accumulation and…
View article: Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice
Gene Expression Profile of the Cerebral Cortex of Niemann-Pick Disease Type C Mutant Mice Open
Background/Objectives: Niemann-Pick disease Type C (NPC) represents an autosomal recessive disorder with an incidence rate of 1 in 100,000 live births that belongs to the lysosomal storage diseases (LSDs). NPC is characterized by the abnor…
View article: Itraconazole and posaconazole, inhibitors of NPC1 sterol transport, act as pharmacological chaperones after washout
Itraconazole and posaconazole, inhibitors of NPC1 sterol transport, act as pharmacological chaperones after washout Open
Niemann-Pick type C (NPC) disease is a rare lysosomal storage disorder primarily caused by mutations in the NPC Cholesterol Transporter 1 (NPC1) gene, resulting in cholesterol and lipid accumulation in late endosomes and lysosomes. While s…
View article: Exploration of Bromodomain Proteins as Drug Targets for Niemann–Pick Type C Disease
Exploration of Bromodomain Proteins as Drug Targets for Niemann–Pick Type C Disease Open
Defects in lysosomal cholesterol handling provoke fatal disorders presenting neurovisceral symptoms with variable onset and life spans. A prime example is Niemann–Pick type C disease (NPCD), where cholesterol export from the endosomal–lyso…
View article: A case of Niemann Pick disease type-A with associated neonatal thrombosis
A case of Niemann Pick disease type-A with associated neonatal thrombosis Open
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View article: Abstract 2682 Lipid Changes in Niemann-Pick Type C Beyond Cholesterol
Abstract 2682 Lipid Changes in Niemann-Pick Type C Beyond Cholesterol Open
View article: Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research
Short-lived Niemann-Pick type C mice with accelerated brain aging as a novel model for Alzheimer’s disease research Open
Alzheimer’s disease is initially thought to be caused by age-associated accumulation of plaques, in recent years, research has increasingly associated Alzheimer’s disease with lysosomal storage and metabolic disorders, and the explanation …
View article: Small-molecule activation of TFEB alleviates Niemann–Pick disease type C via promoting lysosomal exocytosis and biogenesis
Small-molecule activation of TFEB alleviates Niemann–Pick disease type C via promoting lysosomal exocytosis and biogenesis Open
Niemann–Pick disease type C (NPC) is a devastating lysosomal storage disease characterized by abnormal cholesterol accumulation in lysosomes. Currently, there is no treatment for NPC. Transcription factor EB (TFEB), a member of the microph…
View article: Evidence of Oxytosis/Ferroptosis in Niemann–Pick Disease Type C
Evidence of Oxytosis/Ferroptosis in Niemann–Pick Disease Type C Open
Niemann–Pick Disease Type C (NPC) is a hereditary neurodegenerative disease characterized by selective cell vulnerability, particularly affecting cerebellar anterior Purkinje neurons. These neurons exhibit a distinctive pattern of degenera…
View article: Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II Open
Mucolipidosis type II is a very rare lysosomal disease affecting the UDP-GlcNAc N-acetylglucosamine-1-phosphotransferase enzyme, which catalyzes the synthesis of the targeting signal mannose 6-phosphate in lysosomal acid hydrolases. Its de…
View article: Expression of the Niemann-Pick C1-like 1 Protein in Gastric Cancer
Expression of the Niemann-Pick C1-like 1 Protein in Gastric Cancer Open
NPC1L1 is expressed in both normal gastric tissues and GC tissues, with elevated levels at invasive sites associated with poor prognosis.
View article: Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type <scp>C1</scp> : Correlation With Clinical Severity and Response to Therapeutic Interventions
Elevated Cerebrospinal Fluid Total Tau in Niemann‐Pick Disease Type <span>C1</span> : Correlation With Clinical Severity and Response to Therapeutic Interventions Open
Niemann‐Pick disease, type C1 (NPC1) is an inborn error of intracellular cholesterol transport. Impaired function of NPC1 leads to endolysosomal accumulation of unesterified cholesterol, which results in progressive neurodegeneration. Alth…
View article: Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case
Diagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Case Open
Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingo…
View article: Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patient
Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patient Open
Background Niemann-Pick disease (NPD), also known as acid sphingomyelinase deficiency, represents a group of rare genetic disorders first described in 1914. SMPD1 is a crucial gene in this disease, which encodes the enzyme sphingomyelinase…
View article: Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat
Niemann-Pick C-like Endolysosomal Dysfunction in DHDDS Patient Cells, a Congenital Disorder of Glycosylation, Can Be Treated with Miglustat Open
DHDDS (dehydrodolichol diphosphate synthetase) and NgBR (Nogo-B Receptor) collectively form an enzymatic complex important for the synthesis of dolichol, a key component of protein N-glycosylation. Mutations in DHDDS and the gene encoding …
View article: Synthesis of a Hydroxy-15-Azasterol
Synthesis of a Hydroxy-15-Azasterol Open
Niemann-Pick type C (NPC) is a lysosomal storage disorder that will cause eventual brain damage with limited treatment options available. Though clinical trials are undergoing with repurposed pharmaceuticals, no novel chemotype exists pure…
View article: Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature Open
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations. It is characterized by sphingomyelin accumulation and…
View article: Bromodomain Proteins as New Drug Target for an Inborn Lysosomal Defect
Bromodomain Proteins as New Drug Target for an Inborn Lysosomal Defect Open
View article: Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature Open
Background Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal storage disorder caused by SMPD1 mutations. It is characterized by sphingomyelin accumulation and…
View article: Inhibition of acid ceramidase as a therapeutic strategy for Niemann-Pick C disease
Inhibition of acid ceramidase as a therapeutic strategy for Niemann-Pick C disease Open
Lysosomal storage disorders (LSDs) are a group of individually rare diseases that as a group constitute the most common forms of childhood neurodegeneration. These life limiting and life shortening diseases have the largest economic burden…
View article: Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C Disease Open
Niemann–Pick type C (NPC) is a lysosomal storage disorder (LSD) caused by pathogenic variants in either the NPC1 or NPC2 genes, which encode proteins involved in the lysosomal export of unesterified cholesterol. In patients of Western Euro…
View article: How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann–Pick disease type C from bone marrow and peripheral blood smears
How to diagnose acid sphingomyelinase deficiency (ASMD) and Niemann–Pick disease type C from bone marrow and peripheral blood smears Open
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View article: Niemann-Pick disease: the importance of clinical suspection for the diagnosis
Niemann-Pick disease: the importance of clinical suspection for the diagnosis Open
View article: Neurological features of late infantile Niemann Pick type C disease: case report
Neurological features of late infantile Niemann Pick type C disease: case report Open
View article: Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases
Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases Open
Background: Niemann-Pick disease Type C (NPC) is a rare genetic lipid storage disorder characterized by heterogeneous clinical presentations primarily affecting the neurological and visceral systems. This study aims to elucidate the clinic…
View article: A diagnosis of non‐neuronopathic and late‐onset acid sphingomyelinase deficiency (Niemann‐Pick disease A/B) following bone marrow biopsy showing foamy histiocytosis
A diagnosis of non‐neuronopathic and late‐onset acid sphingomyelinase deficiency (Niemann‐Pick disease A/B) following bone marrow biopsy showing foamy histiocytosis Open
View article: Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies
Mutant induced neurons and humanized mice enable identification of Niemann-Pick type C1 proteostatic therapies Open
Therapeutics that rescue folding, trafficking, and function of disease-causing missense mutants are sought for a host of human diseases, but efforts to leverage model systems to test emerging strategies have met with limited success. Such …
View article: Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease
Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease Open
Niemann-Pick disease type C1 (NP-C1) is a rare and devastating recessive inherited lysosomal lipid and cholesterol storage disorder caused by mutations in the NPC1 or NPC2 gene. These two proteins bind to cholesterol and cooperate in endos…
View article: Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C
Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C Open
Niemann-Pick disease Type C (NPC) is a neurodegenerative disease mainly caused by the mutation in NPC1 gene, leading to massive accumulation of unesterified cholesterol in the late endosome/lysosome of cells. Impaired phenotype of microgli…