Publikasi Scopus 2024 per tanggal 31 Mei 2024 (409 artikel)

178

Authors

Evani S.; Pangestu H.S.; Arisandi M.R.; Prakoso N.M.; Priambodo R.; Pambudi B.; Hafifah C.N.; Aswin Y.A.; Lestari R.; Sjarif D.R.

Author_Full_Names

Evani, Selsa (58902588600); Pangestu, Haryo Seno (58902884200); Arisandi, Muhammad Rafi (58902139600); Prakoso, Nurul Muhammad (57214084050); Priambodo, Rizky (57190937999); Pambudi, Bobby (58902437600); Hafifah, Cut Nurul (57204112129); Aswin, Yulia Ariani (57222721787); Lestari, Retno (55624757400); Sjarif, Damayanti Rusli (6506242684)

Author S Id

58902588600; 58902884200; 58902139600; 57214084050; 57190937999; 58902437600; 57204112129; 57222721787; 55624757400; 6506242684

Title

Molecular analysis in exons 1 and 2 of the tripeptidyl peptidase 1 (TPP1) gene on patients with neuronal ceroid lipofuscinosis type 2 (CLN2) in Indonesia

Year

2024

Source Title

AIP Conference Proceedings

Volume

2710

Issue

Art No

040019

Page Start

Page End

Page Count

Cited By

Link

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85185780370&doi=10.1063%2f5.0171302&partnerID=40&md5=cc54ecdb5266565f12a523d177ff0f8d

Affiliations

Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Pediatric, Faculty of Medicine, Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia; Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia

Authors With Affiliations

Evani S., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia; Pangestu H.S., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia; Arisandi M.R., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia; Prakoso N.M., Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia; Priambodo R., Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia; Pambudi B., Department of Pediatric, Faculty of Medicine, Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Hafifah C.N., Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Faculty of Medicine, Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia; Aswin Y.A., Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia; Lestari R., Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, 16424, Indonesia; Sjarif D.R., Human Genetic Research Center, Indonesian Medical Education and Research Institute (IMERI), Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia, Department of Pediatric, Faculty of Medicine, Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo, Jakarta, 10430, Indonesia

Abstract

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an inborn error of metabolism due to the lack of catalytically-active tripeptidyl-peptidase (TPP1) enzyme encoded by the faulty human TPP1 gene. This study aims to identify the pathogenic variant that might be classified as the causal variant for CLN2 in Indonesia. This study focuses on the exon 1 to exon 2 since these regions are important sites for the synthesis of signal peptides of TPP1 enzyme. The subjects in this study were comprised of three patients confirmed with CLN2 disease and 20 healthy individuals as control. The detection of DNA variants was initiated by DNA extraction, primer design specific for the exons 1 and 2, DNA amplification by polymerase chain reaction (PCR) followed by visualization with gel electrophoresis, and continued by Sanger Sequencing. According to our analysis, we did not detect any clinically relevant variants in exons 1 and 2 of the TPP1 gene that might be the cause of CLN2 disease in our patients. However, we report c.17+16G>C variant in intron 1 of a healthy individual as we propose to classify this variant as benign. More research to detect disease-causing variants in three CLN2 patients in Indonesia needs to be continued to confirm the genetic diagnosis of CLN2 and discover the genetic etiology of CLN2 in our patients. © 2024 Author(s).

Author Keywords

Index Keywords

Funding Details

Funding Text

Publisher

American Institute of Physics Inc.

Issn

0094243X

Isbn

978-073544641-0

Pubmed Id

Document Type

Conference paper

Sjr Best Quartile

Sjr

164

Sjr Rank

21059