Elevated oxysterol and N‐ palmitoyl‐ O ‐phosphocholineserine levels in congenital disorders of glycosylation

Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

(2020) Rohini Sidhu et al.   MOLECULAR GENETICS AND METABOLISM

sMutations in the V‐ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease

(2020) Magda Cannata Serio et al.   HEPATOLOGY

Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation

(2020) Nina Ondruskova et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1

(2020) Rohini Sidhu et al.   MOLECULAR GENETICS AND METABOLISM

Elevated oxysterol levels in human and mouse livers reflect non-alcoholic steatohepatitis

(2019) Tina Raselli et al.   JOURNAL OF LIPID RESEARCH

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

(2018) Bianca Dimitrov et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the X-linkedATP6AP2cause a glycosylation disorder with autophagic defects

(2017) Maria A. Rujano et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

(2016) Eric J. R. Jansen et al.   Nature Communications

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Nogo-B Receptor Stabilizes Niemann-Pick Type C2 Protein and Regulates Intracellular Cholesterol Trafficking

(2009) Kenneth D. Harrison et al.   Cell Metabolism

Oxysterols: Sources, cellular storage and metabolism, and new insights into their roles in cholesterol homeostasis

(2009) Andrew J. Brown et al.   MOLECULAR ASPECTS OF MEDICINE