Results 21 to 30 of about 19,908 (200)

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

Journal of Lipid Research, 2017
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes.
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield   +7 more
doaj   +1 more source

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
T. Dunn, C. Tifft, R. Proia
semanticscholar   +1 more source

Inherited disorders of complex lipid metabolism: A clinical review

Journal of Inherited Metabolic Disease, 2021
Over 80 human diseases have been attributed to defects in complex lipid metabolism. A majority of them have been reported recently in the setting of rapid advances in genomic technology and their increased use in clinical settings.
C. Xiao, Francis Rossignol, F. Vaz, C. Ferreira   +3 more
semanticscholar   +1 more source

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations [PDF]

European Journal of Human Genetics, 2016
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in ...
Joshi, Stephen, Thierry, Vilboux, Yael, Haberman, Hadass, Pri-Chen, Ben, Pode-Shakked, Sina, Mazaheri, Dina, Marek-Yagel, Ortal, Barel, Ayelet, Di Segni, Eran, Eyal, Goni, Hout-Siloni, Avishay, Lahad, Tzippora, Shalem, Gideon, Rechavi, May Christine V, Malicdan, Batia, Weiss, William A, Gahl, Yair, Anikster   +17 more
openaire   +2 more sources

Síndrome de Chanarin-Dorfman Chanarin-Dorfman Syndrome

Revista Brasileira de Hematologia e Hemoterapia, 2010
A síndrome de Chanarin-Dorfman é uma doença rara autossômica recessiva, que pode estar associada à ictiose, caracteriza-se pela presença de gotículas lipídicas intracelulares em células dos mais variados tecidos, especialmente nos queratinócitos e ...
Sheila de Oliveira Garcia, Aline de Lima Deolindo, Juliana Pereira   +2 more
doaj   +1 more source

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism.

Clinical Chemistry
BACKGROUND Sphingolipids play a crucial role in cellular functions and are essential components of cell membranes, signaling molecules, and lipid metabolism. In particular, ceramide is a key intermediate in sphingolipid metabolism and defects in ceramide
S. Byeon, Jinyong Kim, Peter J. Wegwerth, Roman M Zenka, J. George, F. Pinto e Vairo, D. Oglesbee, M. J. Schultz, D. Matern, Akhilesh Pandey   +9 more
semanticscholar   +1 more source

Tracing the lipidome in inborn errors of metabolism.

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality.
M. Zandl-Lang
semanticscholar   +1 more source

Sitosterolemia with double variant in ABCG8 gene: a case report

Journal of Rare Diseases
Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to ...
Sara Isabel Noreña Gómez, Aura María Salazar-Solarte, María del Pilar Pereira Gómez, Susana Gómez Rojas, Juan Manuel Alfaro Velásquez   +4 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source