Dataset Information

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

ABSTRACT: Comparitive proteomics analyses of different cell types of blood i.e. platelets, neutrophils, monocytes and CD4 derived from the Gray platelet syndrome patients and their respective controls using TMT10plex reagents.

INSTRUMENT(S): Orbitrap Fusion Lumos, Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Platelet, Blood Cell, Monocyte, Neutrophil, Blood

DISEASE(S): Gray Platelet Syndrome

SUBMITTER: Laxmikanth Kollipara

LAB HEAD: Albert Sickmann

PROVIDER: PXD016366 | Pride | 2020-07-23

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	GPS_CD4_TMT_Global.msf	Msf
	GPS_Monocytes_TMT_Global.msf	Msf
	GPS_Neutrophils_TMT_Global.msf	Msf
	GPS_Platelets_TMT_Global.msf	Msf
	Lumos07270.raw	Raw

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Publications

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Sims Matthew C MC Mayer Louisa L Collins Janine H JH Bariana Tadbir K TK Megy Karyn K Lavenu-Bombled Cecile C Seyres Denis D Kollipara Laxmikanth L Burden Frances S FS Greene Daniel D Lee Dave D Rodriguez-Romera Antonio A Alessi Marie-Christine MC Astle William J WJ Bahou Wadie F WF Bury Loredana L Chalmers Elizabeth E Da Silva Rachael R De Candia Erica E Deevi Sri V V SVV Farrow Samantha S Gomez Keith K Grassi Luigi L Greinacher Andreas A Gresele Paolo P Hart Dan D Hurtaud Marie-Françoise MF Kelly Anne M AM Kerr Ron R Le Quellec Sandra S Leblanc Thierry T Leinøe Eva B EB Mapeta Rutendo R McKinney Harriet H Michelson Alan D AD Morais Sara S Nugent Diane D Papadia Sofia S Park Soo J SJ Pasi John J Podda Gian Marco GM Poon Man-Chiu MC Reed Rachel R Sekhar Mallika M Shalev Hanna H Sivapalaratnam Suthesh S Steinberg-Shemer Orna O Stephens Jonathan C JC Tait Robert C RC Turro Ernest E Wu John K M JKM Zieger Barbara B Kuijpers Taco W TW Whetton Anthony D AD Sickmann Albert A Freson Kathleen K Downes Kate K Erber Wendy N WN Frontini Mattia M Nurden Paquita P Ouwehand Willem H WH Favier Remi R Guerrero Jose A JA

Blood 20201001 17

Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow (BM) fibrosis. Due to the rarity of GPS, it has been difficult to fully understand the pathogenic processes that lead to these clinical sequelae. To discern the spectrum of pathologic features, we performed a detailed clinical genotypic and phenotypic study of 47 patients with GPS and identified ...[more]

PMID: 32693407

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Project description:Parkinson disease (PD) is a neurodegenerative disease characterized by the accumulation of alpha-synuclein (SNCA) and other proteins in aggregates termed âLewy Bodiesâ within neurons. PD has both genetic and environmental risk factors, and while processes leading to aberrant protein aggregation are unknown, past work points to abnormal levels of SNCA and other proteins. Although several genome-wide studies have been performed for PD, these have focused on DNA sequence variants by genome-wide association studies (GWAS) and on RNA levels (microarray transcriptomics), while genome-wide proteomics analysis has been lacking. After appropriate filters, proteomics identified 3,558 unique proteins and 283 of these (7.9%) were significantly different between PD and controls (q-value<0.05). RNA-sequencing identified 17,580 protein-coding genes and 1,095 of these (6.2%) were significantly different (FDR p-value<0.05), but only 166 of the FDR significant protein-coding genes (0.94%) were present among the 3,558 proteins characterized. Of these 166, eight genes (4.8%) were significant in both studies, with the same direction of effect. Functional enrichment analysis of the proteomics results strongly supports mitochondrial-related pathways, while comparable analysis of the RNA-sequencing results implicates protein folding pathways and metallothioneins. Ten of the implicated genes or proteins co-localized to GWAS loci. Evidence implicating SNCA was stronger in proteomics than in RNA-sequencing analyses. Notably, differentially expressed protein-coding genes were more likely to not be characterized in the proteomics analysis, which lessens the ability to compare across platforms. Combining multiple genome-wide platforms offers novel insights into the pathological processes responsible for this disease by identifying pathways implicated across methodologies. The study consists of mRNA-Seq (29 PD, 44 neurologically normal controls) and three-stage Mass Spectrometry Tandem Mass Tag Proteomics (12 PD, 12 neurologically normal controls) performed in post-mortem BA9 brain tissue. The proteomics samples are a subset of the RNA-Seq samples.

Dataset Information

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Dataset's files

Publications

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

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