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Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

ABSTRACT: In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare it to the mice MLIV CSF. We define possible biomarkers for this devastating disease.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Brain

SUBMITTER: Amir Prior

LAB HEAD: Anthony H. Futerman

PROVIDER: PXD020491 | Pride | 2021-08-10

REPOSITORIES: Pride

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			Action	DRS
	Apply_FDR__SP_11.finished.txt	Txt
	Applying_FDR11.finished.txt	Txt
	Assembling_proteins14.finished.txt	Txt
	Assembling_proteins24.finished.txt	Txt
	Assembling_proteins34.finished.txt	Txt

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Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways.

Vardi Ayelet A Pri-Or Amir A Wigoda Noa N Grishchuk Yulia Y Futerman Anthony H AH

Orphanet journal of rare diseases 20210121 1

<h4>Background</h4>Mucolipidosis type IV (MLIV), an ultra-rare neurodevelopmental and neurodegenerative disorder, is caused by mutations in the MCOLN1 gene, which encodes the late endosomal/lysosomal transient receptor potential channel TRPML1 (mucolipin 1). The precise pathophysiogical pathways that cause neurological disease in MLIV are poorly understood. Recently, the first post-mortem brain sample became available from a single MLIV patient, and in the current study we performed mass spectro ...[more]

PMID: 33478506

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Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

Project description:In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare it to the mice MLIV CSF. We define possible biomarkers for this devastating disease.

2021-08-10 | PXD020494 | Pride

Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

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2024-05-03 | PXD046619 | Pride

Proteomics analysis of a human brain sample from a mucolipidosis type IV patient reveals pathophysiological pathways

Project description:We obtained accesses to brain tissue and cerebrospinal fluid (CSF) from the only available post- mortem mucolipidosis type IV (MLIV) patient which became available only recently. We performed mass spectrometry (MS)- based proteomics. Our data demonstrate that pathological players detected in Mcoln1-/- mice are also relevant in the human disease. Moreover, we suggest some previously un-known pathological players. We complement this study by using Mcoln1-/- mice, and were able to confirm that many pathological pathways are evident early in disease development, emphasizing the need for early therapeutic intervention.

2021-01-27 | GSE157825 | GEO

Network analysis of the CSF proteome characterises convergent pathways of cellular dysfunction in ALS

Project description:Amyotrophic lateral sclerosis is a clinical syndrome with complex biological determinants, but which in most cases is characterised by TDP-43 pathology. The identification in CSF of a protein signature of TDP-43 network dysfunction would have the potential to inform the identification of new biomarkers and therapeutic targets. We compared CSF proteomic data from patients with ALS (n=41), Parkinson's disease (n=19) and healthy control participants (n=20). Weighted correlation network analysis was used to identify modules within the CSF protein network and combined with gene ontology enrichment analysis to functionally annotate module proteins. Analysis of module eigenproteins and differential correlation analysis of the CSF protein network was used to compare ALS and Parkinson's disease protein co-correlation with healthy controls. In order to monitor temporal changes in the CSF proteome, we performed longitudinal analysis of the CSF proteome in a subset of ALS patients. Alterations in the co-correlation network in CSF samples identified a set of pathways known to be associated with TDP-43 dysfunction in the pathogenesis of ALS, with important implications for therapeutic targeting and biomarker development.

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Expression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates

2014-01-29 | GSE43854 | GEO

Gene expression in the femur hip joint articular cartilage of 12-week-old Gnptg-KO mice

Project description:Mucolipidosis type III is a rare disease caused by mutations in the GNPTG gene, encoding the gamma-subunit of GlcNAc-1-phosphotransferase. Since osteoarthritis and joint stiffness are typical symptoms of the disease, we aimed to investigate the role of the gamma-subunit on cartilage homeostasis. We used microarray analysis to compare the global gene expression in the articular cartilage of Gnptg-KO and wild-type mice.

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2024-08-10 | PXD052590 | Pride

Expression data from primary osteoblasts isolated from calvaria of Gnptab(c.3082insC) knock-in mice compared with osteoblasts isolated from wild-type littermates

Project description:Mucolipidosis type II (MLII) is a severe inherited multisystemic disorder caused by mutations in the GNPTAB gene. Skeletal abnormalities are a predominant feature of MLII. Here we investigate the gene expression in a knock-in mouse model for mucolipidosis type II, generated by the insertion of a cytosine in the murine Gnptab gene (c.3082insC) that is homologous to a homozygous mutation in an MLII patient. Since osteoblasts are critically involved in regulating bone development and remodeling, a genome-wide expression analysis was performed with RNA isolated from primary cultures of osteoblasts originating from MLII knock-in mice (KI) compared to RNA from wild-type (WT) osteoblasts to identify dysregulated genes involved in pathogenic mechanisms. Primary osteoblasts were isolated from calvaria of 5-day-old wild-type (WT) and MLII knock-in littermates (KI). RNA was extracted at day 10 of differentiation induced by ascorbic acid and beta-glycerophosphate and hybridization on Affymetrix microarrays. We used preparations of RNA from two individual primary cultures of osteoblasts for every genotype (WT_OB_I, WT_OB_II, KI_OB_I, KI_OB_II) and compared WT vs KI samples.

2014-01-29 | E-GEOD-43854 | biostudies-arrayexpress

Gene expression profile in individuals affected by Mucolipidosis type IV

Project description:We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). Keywords: Disease state analysis

2008-02-11 | GSE5444 | GEO

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