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Malformation syndromes caused by disorders of cholesterol synthesis

Journal of lipid research, 2011-01, Vol.52 (1), p.6-34

2011

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Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome

American journal of medical genetics. Part A, 2024-09, p.e63875

2024

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Trifunctional lipid probes for comprehensive studies of single lipid species in living cells

Proceedings of the National Academy of Sciences - PNAS, 2017-02, Vol.114 (7), p.1566-1571

2017

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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Genetics in medicine, 2016-01, Vol.18 (1), p.41-48

2016

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

FEBS letters, 2016-06, Vol.590 (11), p.1651-1662

2016

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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

Human molecular genetics, 2018-06, Vol.27 (12), p.2076-2089

2018

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Intracellular sphingosine releases calcium from lysosomes

eLife, 2015-11, Vol.4

2015

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Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

PloS one, 2020-01, Vol.15 (1), p.e0227829-e0227829

2020

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Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Journal of lipid research, 2024-08, Vol.65 (8), p.100600, Article 100600

2024

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

Journal of lipid research, 2011-07, Vol.52 (7), p.1435-1445

2011

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Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1

PloS one, 2017-04, Vol.12 (4), p.e0175478-e0175478

2017

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Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Annual review of genomics and human genetics, 2014-01, Vol.15 (1), p.173-194

2014

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Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.231-231

2024

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Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

Journal of proteome research, 2023-07, Vol.22 (7), p.2493-2508

2023

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N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Journal of lipid research, 2019-08, Vol.60 (8), p.1410-1424

2019

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Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Science translational medicine, 2016-05, Vol.8 (337), p.337ra63

2016

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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process

Nature communications, 2019-11, Vol.10 (1), p.5052-15, Article 5052

2019

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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Science translational medicine, 2010-11, Vol.2 (56), p.56ra81

2010

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Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella

International journal of molecular sciences, 2020-07, Vol.21 (15), p.5368

2020

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Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1

International journal of molecular sciences, 2024-04, Vol.25 (8), p.4217

2024

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A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

Journal of lipid research, 2015-06, Vol.56 (6), p.1222-1233

2015

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Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

Current topics in medicinal chemistry, 2014-02, Vol.14 (3), p.330-339

2014

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FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts

The FASEB journal, 2017-04, Vol.31 (4), p.1719-1730

2017

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Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

Molecular genetics and metabolism, 2019-04, Vol.126 (4), p.466-469

2019

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Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

BMC genomics, 2023-08, Vol.24 (1), p.1-460, Article 460

2023

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Malformation syndromes caused by disorders of cholesterol synthesis

Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome

Trifunctional lipid probes for comprehensive studies of single lipid species in living cells

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention

Intracellular sphingosine releases calcium from lysosomes

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

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

Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1

Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Cerebrospinal Fluid Protein Biomarker Discovery in CLN3

N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease

Development of a bile acid-based newborn screen for Niemann-Pick disease type C

Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella

Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease

FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history

Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

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