0000000000988717

AUTHOR

André R. A. Marques

showing 3 related works from this author

Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

2019

CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the lysosomal-autophagy machinery. In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL). NCLs are distinct lysosomal storage disorders (LSDs) sharing various hallmarks, namely accumulation of protein aggregates and ceroid lipofuscin leading to neurodegeneration and blindness. The most established and clinically approved approach to treat LSDs is enzyme replacement therapy (ERT) aim…

0301 basic medicineproteolysisCathepsin DCathepsin DCathepsin BstorageCathepsin L03 medical and health sciencesSequestosome 1Neuronal Ceroid-LipofuscinosesAutophagymedicineAnimalsHumansEnzyme Replacement TherapyeducationMolecular BiologyMice Knockouttherapyeducation.field_of_studyTripeptidyl-Peptidase 1030102 biochemistry & molecular biologybiologyAutophagy; cathepsin D; enzyme replacement therapy; lysosome; neuronal ceroid lipofuscinosis; proteolysis; storage; therapyBrainCell BiologyFibroblastsTripeptidyl peptidase Imedicine.diseaseLRP1Cell biologyDisease Models Animal030104 developmental biologylysosomebiology.proteinAllograft inflammatory factor 1Neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosisLysosomesResearch PaperAutophagy
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Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain

2018

The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet. Most of the endocannabinoid enzymes are serine hydrolases, which can be studied using activity-based protein profiling (ABPP). Here, we report the serine hydrolase activity in brain proteomes of a NPC mouse model as measured by ABPP. Two ABPP methods are used: a gel-based method and a chemical proteomics method. The activities of the following endocannabinoid enzymes were quantified: diacylglycerol lipase (DAGL) α, α/β-hydrolase domain-containing protein 4, α…

0301 basic medicineDiacylglycerol lipasehydrolaseslcsh:RC321-571Serine03 medical and health sciences0302 clinical medicineThioesterasechemical proteomicsFatty acid amide hydrolaseSerine hydrolase activityendocannabinoid systemlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryNiemann-Pick type COriginal Researchactivity-based protein profilingbiologyChemistryGeneral NeuroscienceActivity-based proteomicsSerine hydrolaseMonoacylglycerol lipase030104 developmental biologyBiochemistrybiology.protein030217 neurology & neurosurgeryNeuroscience
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Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

2019

CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the lysosomal-autophagy machinery. In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL). NCLs are distinct lysosomal storage disorders (LSDs) sharing various hallmarks, namely accumulation of protein aggregates and ceroid lipofuscin leading to neurodegeneration and blindness. The most established and clinically approved approach to treat LSDs is enzyme replacement therapy (ERT) aim…

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