Literature DB >> 31251104

Standard-flow LC and thermal focusing ESI elucidates altered liver proteins in late stage Niemann-Pick, type C1 disease.

Melissa R Pergande1, Estefania Zarate1, Carol Haney-Ball2, Cristin D Davidson3, Giuseppe Scesa4, Maria I Givogri4, Ernesto R Bongarzone4, Stephanie M Cologna1,5.   

Abstract

Aim: Mass spectrometry (MS)-based proteomics, particularly with the development of nano-ESI, have been invaluable to our understanding of altered proteins related to human disease. Niemann-Pick, type C1 (NPC1) disease is a fatal, autosomal recessive, neurodegenerative disorder. The resulting defects include unesterified cholesterol and sphingolipids accumulation in the late endosomal/lysosomal system resulting in organ dysfunction including liver disease. Materials & methods: First, we performed MS analysis of a complex mammalian proteome using both nano- and standard-flow ESI with the intent of developing a differential proteomics platform using standard-flow ESI. Next, we measured the differential liver proteome in the NPC1 mouse model via label-free quantitative MS using standard-flow ESI.
Results: Using the standard-flow ESI approach, we found altered protein levels including, increased Limp2 and Rab7a in liver tissue of Npc1-/- compared to control mice.
Conclusion: Standard-flow ESI can be a tool for quantitative proteomic studies when sample amount is not limited. Using this method, we have identified new protein markers of NPC1.

Entities:  

Keywords:  AJS-ESI; NPC; Niemann–Pick type C1; biomarker; ion funnel; mass spectrometry; proteomics; thermal gradient focusing

Year:  2019        PMID: 31251104     DOI: 10.4155/bio-2018-0232

Source DB:  PubMed          Journal:  Bioanalysis        ISSN: 1757-6180            Impact factor:   2.681


  6 in total

Review 1.  Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.

Authors:  Wenping Li; Stephanie M Cologna
Journal:  Mol Omics       Date:  2022-05-11

2.  Mass spectrometry imaging and LC/MS reveal decreased cerebellar phosphoinositides in Niemann-Pick type C1-null mice.

Authors:  Koralege C Pathmasiri; Melissa R Pergande; Fernando Tobias; Rima Rebiai; Avia Rosenhouse-Dantsker; Ernesto R Bongarzone; Stephanie M Cologna
Journal:  J Lipid Res       Date:  2020-05-05       Impact factor: 5.922

Review 3.  Ferroptosis and Its Modulation by Autophagy in Light of the Pathogenesis of Lysosomal Storage Diseases.

Authors:  Karolina Pierzynowska; Estera Rintz; Lidia Gaffke; Grzegorz Węgrzyn
Journal:  Cells       Date:  2021-02-10       Impact factor: 6.600

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

Authors:  Antony Cougnoux; Julia C Yerger; Mason Fellmeth; Jenny Serra-Vinardell; Kyle Martin; Fatemeh Navid; James Iben; Christopher A Wassif; Niamh X Cawley; Forbes D Porter
Journal:  Int J Mol Sci       Date:  2020-07-28       Impact factor: 5.923

5.  GCase and LIMP2 Abnormalities in the Liver of Niemann Pick Type C Mice.

Authors:  Martijn J C van der Lienden; Jan Aten; André R A Marques; Ingeborg S E Waas; Per W B Larsen; Nike Claessen; Nicole N van der Wel; Roelof Ottenhoff; Marco van Eijk; Johannes M F G Aerts
Journal:  Int J Mol Sci       Date:  2021-03-03       Impact factor: 5.923

Review 6.  Deregulation of signalling in genetic conditions affecting the lysosomal metabolism of cholesterol and galactosyl-sphingolipids.

Authors:  S Gowrishankar; S M Cologna; M I Givogri; E R Bongarzone
Journal:  Neurobiol Dis       Date:  2020-10-17       Impact factor: 5.996

  6 in total

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