Niemann-Pick Disease

Title: Niemann-Pick DiseaseCategory: Diseases and ConditionsCreated: 8/23/2018 12:00:00 AMLast Editorial Review: 8/23/2018 12:00:00 AM
Source: MedicineNet Kids Health General - Category: Pediatrics Source Type: news

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Abstract Acid sphingomyelinase (ASM) is a lysosomal hydrolase that degrades sphingomyelin into ceramide and phosphocholine. Recent crystallographic studies revealed the functional role of the N-terminal ASM saposin domain. ASM deficiency due to mutations in the ASM-encoding sphingomyelin phosphodiesterase 1 (SMPD1) gene causes an autosomal recessive sphingolipid-storage disorder, known as Niemann-Pick disease Type A (NPA) or Type B (NPB). NPA is an early-onset neuronopathic disorder, while NPB is a late-onset non-neuronopathic disorder. A homozygous one-base substitution (c.398G>A) of the SMPD1 gene was identif...
Source: The Tohoku Journal of Experimental Medicine - Category: Research Authors: Tags: Tohoku J Exp Med Source Type: research
Publication date: 14 January 2020Source: Cell Reports, Volume 30, Issue 2Author(s): Yoshihiro Takadate, Tatsunari Kondoh, Manabu Igarashi, Junki Maruyama, Rashid Manzoor, Hirohito Ogawa, Masahiro Kajihara, Wakako Furuyama, Masahiro Sato, Hiroko Miyamoto, Reiko Yoshida, Terence E. Hill, Alexander N. Freiberg, Heinz Feldmann, Andrea Marzi, Ayato TakadaSummaryFruit bats are suspected to be natural hosts of filoviruses, including Ebola virus (EBOV) and Marburg virus (MARV). Interestingly, however, previous studies suggest that these viruses have different tropisms depending on the bat species. Here, we show a molecular basis u...
Source: Cell Reports - Category: Cytology Source Type: research
Chandran Munro The Ebola virus (EBOV) envelope glycoprotein (GP) mediates the fusion of the virion membrane with the membrane of susceptible target cells during infection. While proteolytic cleavage of GP by endosomal cathepsins and binding of the cellular receptor Niemann-Pick C1 protein (NPC1) are essential steps for virus entry, the detailed mechanisms by which these events promote membrane fusion remain unknown. Here, we applied single-molecule Förster resonance energy transfer (smFRET) imaging to investigate the structural dynamics of the EBOV GP trimeric ectodomain, and the functional transmembrane p...
Source: Viruses - Category: Virology Authors: Tags: Article Source Type: research
This study was a retrospective analysis of data from 834 patients with molecularly confirmed ARCAs, including 57 NPC cases (RADIAL cohort). We aimed to compare the algorithm performance of RADIAL (Top 1 and Top 3) with that of four SIs (Original, Refined, 2/3 and 2/7) in discriminating NPC cases and non-NPC cases. We also identified ARCAs closely related to NPC as those with low specificity to detect non-NPC cases and described differential and overlapping features with NPC. Overall, excellent sensitivity and specificity (> 0.90) were achieved with both RADIAL and SI tools for NPC cases. The highest sensitivity w...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
This study was a retrospective analysis of data from 834 patients with molecularly confirmed ARCAs, including 57 NPC cases (RADIAL cohort). We aimed to compare the algorithm performance of RADIAL (Top 1 and Top 3) with that of four SIs (Original, Refined, 2/3 and 2/7) in discriminating NPC cases and non-NPC cases. We also identified ARCAs closely related to NPC as those with low specificity to detect non-NPC cases and described differential and overlapping features with NPC. Overall, excellent sensitivity and specificity (>  0.90) were achieved with both RADIAL and SI tools for NPC cases. The highest sensitivity ...
Source: The Cerebellum - Category: Neurology Source Type: research
In this study, we established antennal transcriptome of H. rhodope and ultimately identified 19 odorant binding proteins (OBPs), 23 chemosensory proteins (CSPs) and 4 Niemann-Pick type C2 proteins (NPC2s). The 19 OBPs, 6 CSPs and 4 NPC2s were assessed to validate the differential expressions between sexes, and between olfactory and non-olfactory tissues. 8 OBPs and 2 CSPs exhibited male-biased antennae expression, while 6 OBPs, 2 CSPs and HrhoNPC2a exhibited female-biased antennae expression. Moreover, 17 OBPs, 4 CSPs and 2 NPC2s were predominantly expressed in the antennae compared with non-olfactory tissues. HrhoOBP1 and...
Source: Comparative Biochemistry and Physiology Part D: Genomics and Proteomics - Category: Genetics & Stem Cells Source Type: research
Authors: Prasad D, Bhriguvanshi A Abstract Liver and eyes are interlinked to each other in various medical conditions. There are certain ocular findings which directly indicate specific liver disorders. Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic value and spares the patient of unnecessary invasive and detailed work up. However, due to its silent and heterogeneous presentation, it is often unrecognize...
Source: Annals of Hepatology - Category: Gastroenterology Tags: Ann Hepatol Source Type: research
Abstract Background: Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies.Methods: Clinical charts, histologic slides and EM materials of native liver biopsies from patients
Source: Ultrastructural Pathology - Category: Pathology Authors: Tags: Ultrastruct Pathol Source Type: research
Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver diseases worldwide, although its pathogenesis remains to be elucidated. A recent study revealed that hepatic Niemann-Pick C1-Like 1 (NP...
Source: Lipids in Health and Disease - Category: Lipidology Authors: Tags: Research Source Type: research
CONCLUSIONS: Hence this protocol is adequate to improve long term potentiation (LTP) impairment and counteract muscular deterioration in homozygous mice. PMID: 31850859 [PubMed - in process]
Source: Annali dell Istituto Superiore di Sanita - Category: General Medicine Tags: Ann Ist Super Sanita Source Type: research
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