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Npc1 deficiency in the C57BL/6J genetic background enhances Niemann–Pick disease type C spleen pathology
(2011)
Niemann–Pick type C (NPC) disease is an autosomal recessive neurovisceral lipid storage disorder. The affected genes are NPC1 and NPC2. Mutations in either gene lead to intracellular cholesterol accumulation. There are ...
Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice
(ELSEVIER IRELAND LTD, 2010)
Niemann Pick C2 (NPC2) and NPC1 proteins function cooperatively to catalyze cholesterol efflux from lysosomes. NPC1 is expressed in ovarian cells and female NPC1 mice are infertile. This work addressed for the first time ...
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
(2023)
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal cholesterol and glycosphingolipids due to loss of function mutations in the NPC1 and NPC2 genes. NPC ...
Neuronal gene repression in Niemann-Pick type C models is mediated by the c-Abl/HDAC2 signaling pathway
(2016)
Background: Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder characterized by the accumulation of free cholesterol in lysosomes. There are currently no effective FDA-approved treatments for NPC, ...
A Novel Three-Port NPC Converter for Grid-Tied Photovoltaic Systems with Integrated Battery Energy Storage
(IEEE, 2020)
The variable behaviour of the photovoltaic (PV) generation arises as the main drawback of this technology. Therefore, Battery Energy Storage (BES) units appear as a promising solution to overcome the inherent intermittent ...
Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
(2017)
Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While ...
Inversor fotovoltaico não isolado NPC intercalado
(Universidade Federal de Santa MariaBREngenharia ElétricaUFSMPrograma de Pós-Graduação em Engenharia Elétrica, 2016-03-04)
Throughout the twentieth century, the supply of electricity, mainly obtained from
fossil fuels like oil and coal, it has supported the growth and transformation of the world
economy. In the early years of this century, the ...
Lack of Annexin A6 exacerbates liver dysfunction and reduces lifespan of NPC1- deficient mice
(Elsevier Inc./ American Society for Investigative Pathology, 2020)
Niemann-Pick type C disease (NP-C) is a lysosomal storage disorder characterized by cholesterol accumulation caused by loss-of-function mutations in the Npc1 gene. NP-C disease primarily affects the brain, causing neuronal ...
Transgenic overexpression of Niemann-Pick C2 protein promotes cholesterol gallstone formation in mice
(2016)
Background & Aims: Niemann-Pick C2 (NPC2) is a lysosomal protein involved in the egress of low-density lipoprotein-derived cholesterol from lysosomes to other intracellular compartments. NPC2 has been detected in several ...
A simplified Space-Vector modulation algorithm for four-leg NPC converters
(IEEE Inst Electrical and Electronic Engineering Inc., 2017)
To interface generation sources and loads to fourwire distribution networks it is important to use power converters and modulation methods, which provide high performance, flexibility, and reliability. To achieve these ...