Analysis of Gaucher Disease Responsible Genes in Colorectal Adenocarcinoma

Karataş, Mesut; Turan, Yusuf

doi:10.4172/2155-6180.1000314

Cited by 3 publications

(3 citation statements)

References 12 publications

(15 reference statements)

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“…It has already been understood that to poisomerase II consensus sequence locates within exon12, which is the target of etoposide application. This suggests that etopside stimulation of the cleavage is expressed at the distal site of the enzyme binding consensus sequence [29][30][31][32].…”

Section: Mll Breaking Pointmentioning

confidence: 98%

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2017

BPOJ

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MLL is one of the most aggressive leukemias which mostly targets pediatric patients. Genetic rearrangement of the 11q23 location is the main reason for this type of acute leukemia. MLL gene and its fusion proteins have produced a core complex which leads to abnormal hematopoesis. Although many clinical and lab studies have been done to show the prominent role of MLL in leukemogenesis since its discovery in 1992, large-scale genomic data seems to be the most effective way to analyse the hematologic malignancies extensively. Gene expression, methylation, mutation, RNA-seq, and SNP arrays have updated the understanding of the transformation oncohematologic disorder mechanism. As a result of the genomic data analysis, new biomarkers may have been detected as therapy target genes and used for personalized medicine. The genomics-bioinformatics studies and novel technical advances provide some precious knowledge to discover novel therapeutic strategies and better treatment outcomes in the future.

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Section: Mll Breaking Pointmentioning

confidence: 98%

Untitled

2017

BPOJ

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“…Medically, Gaucher disease (GD, OMIM#230800) is the most protracted health condition related to the defective GCase activity [8]. Recent studies, however, further associate GCase with severe health conditions such as Parkinson's Disease (PD, OMIM#168600) [10], Dementia with Lewy bodies (DLB, OMIM# 127750) [11] and colorectal cancer [12]. GCase is encoded by the housekeeping gene glucosylceramidase beta acid 1 (GBA1, OMIM*606463) with cytogenetic location 1q21 [13].…”

Section: Introductionmentioning

confidence: 99%

Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase

Karataş

Dogan

Spahiu

et al. 2020

Heliyon

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“…Gaucher disease (GD, OMIM#230800) is the most protracted health condition related to defective GCase activity [6]. The recent studies, however, further associated GCase with severe health conditions such as Parkinson's Disease (PD, OMIM#168600) [8], Dementia with Lewy bodies (DLB, OMIM# 127750) [9] and colorectal cancer [10]. GCase is encoded by the housekeeping gene glucosylceramidase beta acid 1 (GBA1, OMIM*606463) with cytogenetic location 1q21 [11].…”

Section: Introductionmentioning

confidence: 99%

Enzyme Kinetics and Inhibition Parameters of Human Leukocyte Glucosylceramidase

Karataş

Dogan

Spahiu³

et al. 2020

Preprint

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Glucosylceramidase (GCase) is a lysosomal enzyme that catalyzes the cleavage of β-glucosidic linkage of glucocerebroside (GC) into glucose and ceramide; thereby, plays an essential function in the degradation of complex lipids and the turnover of cellular membranes.The growing list of 460 mutations in the gene coding for it—glucosylceramidase beta acid 1 (GBA1)—is reported to abolish its catalytic activity and decrease its enzyme stability, associating it with severe health conditions such as Gaucher disease (GD), Parkinson Disease and Dementia with Lewy bodies.Although the three-dimensional structure of wild type glucosylceramidase is elucidated, little is known about its features in human cells. Moreover, alternative sources of GCase that prove to be effective in the treatment of diseases with enzyme treatment therapies, impose the need for simple and cost-effective procedures to study the enzyme behaviour. This work, for the first time, shows a well established, yet simple, cost- and time-efficient protocol for the study of GCase enzyme in human leukocytes by the artificial substrate PNPG. Characterization of the enzyme in human leukocytes for activation parameters (optimal pH, Km, and Vmax) and enzyme inhibition, was done. The results indicate that the optimum pH of GCase enzyme with PNPG is 5.1. The Km and Vmax values were 12.6mM and 333 U/mg, respectively. Gluconolactone successfully inhibits GCase in a competitive manner, with a Ki value of 0.023 mM and IC 50 of 0.047 mM. Glucose inhibition was uncompetitive with a Ki of 1.94 mM and IC50 of 55.3 mM. This is the first report for the inhibitory effect of glucose, δ-gluconolactone on leukocyte GCase activity.

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Analysis of Gaucher Disease Responsible Genes in Colorectal Adenocarcinoma

Cited by 3 publications

References 12 publications

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Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase

Enzyme Kinetics and Inhibition Parameters of Human Leukocyte Glucosylceramidase

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