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...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	Rodriguez-Gil, J, Watkins-Chow, D, Baxter, L, Yokoyama, T, Zerfas, P, Starost, M, Gahl, W, Malicdan, M, Porter, F, Platt, F, Paven, W
التنسيق:	Journal article
منشور في:	MDPI 2019

مواد مشابهة

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
حسب: Newton, J, وآخرون
منشور في: (2017)

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease
حسب: Chang Xie, وآخرون
منشور في: (2017-03-01)

Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
حسب: Baxter, LL, وآخرون
منشور في: (2022)

Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.
حسب: Blair R Roszell, وآخرون
منشور في: (2013-01-01)

Lethal fetal stroke in utero
حسب: Tzu-Hung Lin, وآخرون
منشور في: (2013-06-01)

Is abnormal vaginal microflora a risk factor for intrauterine fetal growth restriction?
حسب: Natalija Vedmedovska, وآخرون
منشور في: (2015-12-01)

Fetal Ultrasound and Magnetic Resonance Imaging Abnormalities in Congenital Cytomegalovirus Infection Associated with and without Fetal Growth Restriction
حسب: Kenji Tanimura, وآخرون
منشور في: (2023-01-01)

Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting
حسب: Angel H. W. Kwan, وآخرون
منشور في: (2022-10-01)

Abnormal umbilical artery Doppler velocimetry and placental histopathological correlation in fetal growth restriction
حسب: R Agarwal, وآخرون
منشور في: (2017-05-01)

Could serotonin play a role in abnormal brain outcomes in fetal growth restriction?
حسب: Kate Beecher, وآخرون
منشور في: (2023-01-01)

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
حسب: Rodriguez-Gil, J, وآخرون
منشور في: (2020)

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress
حسب: Höglinger, D, وآخرون
منشور في: (2019)

LYSOSOMAL SPHINGOSINE STORAGE INDUCED BY MYCOLIC ACID MEDIATED INHIBITION OF THE NPC1 PROTEIN IS CENTRAL TO Mycobacterium tuberculosis INDUCED PATHOGENESIS
حسب: Lloyd-Evans, E, وآخرون
منشور في: (2010)

Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.
حسب: Wilson, R, وآخرون
منشور في: (2017)

An abnormal cerebroplacental ratio (CPR) is predictive of early childhood delayed neurodevelopment in the setting of fetal growth restriction
حسب: Monteith, C, وآخرون
منشور في: (2019)

MemoryRepository for AI NPC
حسب: Shijie Zheng, وآخرون
منشور في: (2024-01-01)

Maternal outcome of prenatally diagnosed lethal fetal anomalies: a year review
حسب: Abdulwahab, Dalia F, وآخرون
منشور في: (2012)

Stillbirth and fetal growth restriction
حسب: V. G. Volkov, وآخرون
منشور في: (2023-03-01)

Fetal Abnormalities in the Fetal Anomaly Clinic at Siriraj Hospital
حسب: Saifon Chawanpaiboon, وآخرون
منشور في: (2002-09-01)

Arterial health during early childhood following abnormal fetal growth
حسب: Rasmus F.W. Olander, وآخرون
منشور في: (2022-01-01)

Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements
حسب: Morokuma Seiichi, وآخرون
منشور في: (2010-08-01)

Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins
حسب: Piyali Saha, وآخرون
منشور في: (2020-05-01)

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
حسب: Raghunath, A, وآخرون
منشور في: (2018)

Fetal Growth Restriction Prediction: How to Move beyond
حسب: Debora F. B. Leite, وآخرون
منشور في: (2019-01-01)

A novel approach to analyze lysosomal dysfunctions through subcellular proteomics and lipidomics: the case of NPC1 deficiency
حسب: Tharkeshwar, A, وآخرون
منشور في: (2017)

Factors Predicting Fetal Growth Restriction and Fetal Cardiac Remodeling
حسب: Chen X, وآخرون
منشور في: (2024-11-01)

Niacin restriction with NAMPT-inhibition is synthetic lethal to neuroendocrine carcinoma
حسب: Miyuki Nomura, وآخرون
منشور في: (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?
حسب: Rijo Mathew Choorakuttil, وآخرون
منشور في: (2023-01-01)

The NPC pathway and persistence of intracellular pathogens
حسب: Weng, Y
منشور في: (2023)

LMP-1 and Nasopharyngeal Carcinoma (NPC)
حسب: Anggun Indah Budiningrum, وآخرون
منشور في: (2014-06-01)

Structure of glycosylated NPC1 luminal domain C reveals insights into NPC2 and Ebola virus interactions.
حسب: Zhao, Y, وآخرون
منشور في: (2016)

Maternal total cell-free DNA in preeclampsia and fetal growth restriction: Evidence of differences in maternal response to abnormal implantation.
حسب: Tal Rafaeli-Yehudai, وآخرون
منشور في: (2018-01-01)

Risk stratification for early-onset fetal growth restriction in women with abnormal serum biomarkers: a retrospective cohort study
حسب: L. Ormesher, وآخرون
منشور في: (2020-12-01)

Fetal brain development in fetal growth restriction using MRI: a systematic review
حسب: L. Meijerink, وآخرون
منشور في: (2025-02-01)

Smoking and Fetal Growth Restriction in Preeclampsia
حسب: Hayes, J, وآخرون
منشور في: (2008)

Diagnosis and Management of Fetal Growth Restriction
حسب: Jacqueline E. A. K. Bamfo, وآخرون
منشور في: (2011-01-01)

Placental Metabolomics of Fetal Growth Restriction
حسب: Jacopo Troisi, وآخرون
منشور في: (2023-02-01)

Prevention of fetal growth restriction in pregnancy
حسب: N. A. Lomova, وآخرون
منشور في: (2018-09-01)

Overview of fetal growth retardation/restriction
حسب: Chun-Chieh Chia, وآخرون
منشور في: (2014-09-01)

Preserved ratio impaired spirometry with or without restrictive spirometric abnormality
حسب: Shinichiro Miura, وآخرون
منشور في: (2023-02-01)