NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal
lung pathology

NPC1 deficiency in mice is associated with fetal growth restriction, neonatal lethality and abnormal lung pathology

The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a lysosomal transmembrane protein essential for normal transport and trafficking of cholesterol and sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes and age of o...

Bibliografske podrobnosti
Main Authors:	Rodriguez-Gil, J, Watkins-Chow, D, Baxter, L, Yokoyama, T, Zerfas, P, Starost, M, Gahl, W, Malicdan, M, Porter, F, Platt, F, Paven, W
Format:	Journal article
Izdano:	MDPI 2019

Podobne knjige/članki

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
od: Newton, J, et al.
Izdano: (2017)

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease
od: Chang Xie, et al.
Izdano: (2017-03-01)

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
od: Baxter, LL, et al.
Izdano: (2022)

Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.
od: Blair R Roszell, et al.
Izdano: (2013-01-01)

Lethal fetal stroke in utero
od: Tzu-Hung Lin, et al.
Izdano: (2013-06-01)

Is abnormal vaginal microflora a risk factor for intrauterine fetal growth restriction?
od: Natalija Vedmedovska, et al.
Izdano: (2015-12-01)

Fetal Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection Associated with and without Fetal Growth Restriction
od: Kenji Tanimura, et al.
Izdano: (2023-01-01)

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting
od: Angel H. W. Kwan, et al.
Izdano: (2022-10-01)

Abnormal umbilical artery Doppler velocimetry and placental histopathological correlation in fetal growth restriction
od: R Agarwal, et al.
Izdano: (2017-05-01)

Could serotonin play a role in abnormal brain outcomes in fetal growth restriction?
od: Kate Beecher, et al.
Izdano: (2023-01-01)

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
od: Rodriguez-Gil, J, et al.
Izdano: (2020)

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress
od: Höglinger, D, et al.
Izdano: (2019)

LYSOSOMAL SPHINGOSINE STORAGE INDUCED BY MYCOLIC ACID MEDIATED INHIBITION OF THE NPC1 PROTEIN IS CENTRAL TO Mycobacterium tuberculosis INDUCED PATHOGENESIS
od: Lloyd-Evans, E, et al.
Izdano: (2010)

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.
od: Wilson, R, et al.
Izdano: (2017)

An abnormal cerebroplacental ratio (CPR) is predictive of early childhood delayed neurodevelopment in the setting of fetal growth restriction
od: Monteith, C, et al.
Izdano: (2019)

MemoryRepository for AI NPC
od: Shijie Zheng, et al.
Izdano: (2024-01-01)

Maternal outcome of prenatally diagnosed lethal fetal anomalies: a year review
od: Abdulwahab, Dalia F, et al.
Izdano: (2012)

Stillbirth and fetal growth restriction
od: V. G. Volkov, et al.
Izdano: (2023-03-01)

Fetal Abnormalities in the Fetal Anomaly Clinic at Siriraj Hospital
od: Saifon Chawanpaiboon, et al.
Izdano: (2002-09-01)

Arterial health during early childhood following abnormal fetal growth
od: Rasmus F.W. Olander, et al.
Izdano: (2022-01-01)

Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements
od: Morokuma Seiichi, et al.
Izdano: (2010-08-01)

Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins
od: Piyali Saha, et al.
Izdano: (2020-05-01)

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
od: Raghunath, A, et al.
Izdano: (2018)

Fetal Growth Restriction Prediction: How to Move beyond
od: Debora F. B. Leite, et al.
Izdano: (2019-01-01)

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
od: Tharkeshwar, A, et al.
Izdano: (2017)

Factors Predicting Fetal Growth Restriction and Fetal Cardiac Remodeling
od: Chen X, et al.
Izdano: (2024-11-01)

Niacin restriction with NAMPT-inhibition is synthetic lethal to neuroendocrine carcinoma
od: Miyuki Nomura, et al.
Izdano: (2023-12-01)

Prioritizing Fetal Structural Abnormalities Over Risk for Pre-Eclampsia and Fetal Growth Restriction in the 20-24 Gestation Week Assessment in India: Missing the Woods for the Trees?
od: Rijo Mathew Choorakuttil, et al.
Izdano: (2023-01-01)

The NPC pathway and persistence of intracellular pathogens
od: Weng, Y
Izdano: (2023)

LMP-1 and Nasopharyngeal Carcinoma (NPC)
od: Anggun Indah Budiningrum, et al.
Izdano: (2014-06-01)

Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.
od: Zhao, Y, et al.
Izdano: (2016)

Maternal total cell-free DNA in preeclampsia and fetal growth restriction: Evidence of differences in maternal response to abnormal implantation.
od: Tal Rafaeli-Yehudai, et al.
Izdano: (2018-01-01)

Risk stratification for early-onset fetal growth restriction in women with abnormal serum biomarkers: a retrospective cohort study
od: L. Ormesher, et al.
Izdano: (2020-12-01)

Fetal brain development in fetal growth restriction using MRI: a systematic review
od: L. Meijerink, et al.
Izdano: (2025-02-01)

Smoking and Fetal Growth Restriction in Preeclampsia
od: Hayes, J, et al.
Izdano: (2008)

Diagnosis and Management of Fetal Growth Restriction
od: Jacqueline E. A. K. Bamfo, et al.
Izdano: (2011-01-01)

Placental Metabolomics of Fetal Growth Restriction
od: Jacopo Troisi, et al.
Izdano: (2023-02-01)

Prevention of fetal growth restriction in pregnancy
od: N. A. Lomova, et al.
Izdano: (2018-09-01)

Overview of fetal growth retardation/restriction
od: Chun-Chieh Chia, et al.
Izdano: (2014-09-01)

Preserved ratio impaired spirometry with or without restrictive spirometric abnormality
od: Shinichiro Miura, et al.
Izdano: (2023-02-01)