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ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009297 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
ProteomicsINPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
In this study, we describe new patients suffering from INPP5K mutations and hereby expand the mutational and clinical spectrum of the underlying disease. Pathogenicity of a new INPP5K missense mutation has been functionally confirmed. In addition, we systematically addressed the need to identify com...
ORGANISM(S): Homo sapiens (Human) 
2021-04-06 | PXD009272 | Pride
L-serine Inpp5k Bip Phgdh Sil1 
ProteomicsExercise prevents substrate overload of liver mitochondria by modification of the compensatory responses during chronic overnutrition
Exercise training is a potent treatment of NAFLD and hepatic insulin resistance. Here we provide molecular information about the hepatic mitochondrial metabolism in mice when chronic overnutrition (high-energy diet (HED) for 6 weeks) is combined with exercise training. Training reduced the hepatic t...
ORGANISM(S): Mus musculus (Mouse) 
2022-02-16 | PXD024308 | Pride
Exercise Mitochondria Dia Mouse Lipidomics Proteomics Lc-ms/ms 
ProteomicsFirst Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC
Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutations in FLNC are associated with myofibrillar myopat...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD016657 | Pride
Filamin c  congenital myopathy  myofibrillar myopathy  flnc  proteomic signature  recessive inheritance 
ProteomicsSimple, scalable and sensitive tip-based identification of protease substrates
Large-scale N-terminomics using COFRADIC and TAILS has revolutionized protease research, but is disseminated only in few labs. We present an alternative and simple protocol for N-terminal peptide enrichment, based on charge-based fractional diagonal chromatography (ChaFRADIC) and requiring only well...
ORGANISM(S): Homo sapiens (Human) 
2018-01-24 | PXD005954 | Pride
Human Lc-ms Scx 
ProteomicsRegulatory function of sympathetic innervation on the endo/lysosomal trafficking of acetylcholine receptor
Regulation of membrane receptors involves management of endocytosis. At the neuromuscular junction, the synapse between skeletal muscle and motoneuron, proper density of the major receptor, the acetylcholine receptor, is of utmost importance for sustaining life in context of mobility. Recent work ha...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-01 | PXD021601 | Pride
Acetylcholine receptor Neuromuscular junction Sympathectomy Sympathetic nervous system Skeletal muscle Endo/lysosomal trafficking 
ProteomicsSIL1 deficiency in lymphoblastoid cells: antagonizing cellular mechanisms and insights into selective vulnerability in Marinesco-Sjögren syndrome
Patients with Marinesco-Sjögren syndrome and gene targeting in mice revealed an essential role for the SIL1/Sil1 gene in maintenance of central nervous tissue and skeletal muscle. SIL1/Sil1 expression is not restricted to a certain tissue, and the gene product, SIL1/Sil1, localizes to the (sarco)end...
ORGANISM(S): Homo sapiens (Human) 
2017-10-10 | PXD003030 | Pride
Human Ebv-lymphoblastoid cells Sil1 mutations 
ProteomicsMethylmalonic acidemia triggers lysosomal-autophagy dysfunctions
Methylmalonic acidemia (MMA) is a rare inborn error of propionate metabolism caused by deficiency of the mitochondrial methylmalonyl-CoA mutase (MUT) enzyme. As matter of fact, MMA patients manifest impairment of the primary metabolic network with profound damages that involve several cell component...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD044101 | Pride
Methylmalonic acidemia Dia Hek293 
ProteomicsThe potential of remdesivir to affect function, metabolism and proliferation of in vitro heart and kidney models
Here, we performed an in vitro toxicity assessment for remdesivir at clinically relevant concentrations around the cmax of 9 µM using H9c2 rat cardiomyoblasts and neonatal mouse cardiomyocytes (NMCM) as heart models and rat NRK-52E cells and human RPTEC/TERT1 cells as kidney models. Due to the tende...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2022-05-24 | PXD029311 | Pride
Cardiotoxicity Covid-19 Mitochondrial toxicity Nephrotoxicity Nucleoside analogue Remdesivir 
ProteomicsProteome profiling of human myoblastic RCMH cell line
The study aimed to comprehensively characterize human myoblastic cell line RCMH using using electron microscopic and proteomic approaches. Myoblastic cell lines can be useful to investigate the complex biochemical changes occuring under different conditions that reflect the physiological and pathoph...
ORGANISM(S): Homo sapiens (Human) 
2016-01-26 | PXD001974 | Pride
Proteome profiling Myoblasts Human cell line Rcmh 
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