Search Result "GBA mutations"


Review Article

Involvement of Gaucher Disease Mutations in Parkinson Disease

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 758-764
Author(s): Lluisa Vilageliu,Daniel Grinberg

Case Report

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease ina 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 230-234
Author(s): Oktay Halit Aktepe,Selin Ardalı Düzgün,Serap Dökmeci Emre,Hatice Serap Sivri

Parkinson Disease Genetics: A Continuum from Mendelian to Multifactorial Inheritance

Journal: Current Molecular Medicine
Volume: 14 Issue: 8 Year: 2014 Page: 1079-1088
Author(s): S. Petrucci,F. Consoli,E.M. Valente

Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High Throughput Screening

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 11 Issue: 1 Year: 2008 Page: 817-824
Author(s): Daniel J. Urban, Wei Zheng, Ozlem Goker-Alpan, Ajit Jadhav, Mary E. LaMarca, James Inglese, Ellen Sidransky, Christopher P. Austin

Review Article

Other Proteins Involved in Parkinson's Disease and Related Disorders

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 765-778
Author(s): Fernando Cardona,Jordi Perez-Tur

Review Article

Healthy Gut, Healthy Brain: The Gut Microbiome in Neurodegenerative Disorders

Journal: Current Topics in Medicinal Chemistry
Volume: 20 Issue: 13 Year: 2020 Page: 1142-1153
Author(s): Sreyashi Chandra,Md. Tanjim Alam,Jhilik Dey,Baby C. Pulikkaparambil Sasidharan,Upasana Ray,Amit K. Srivastava,Sonu Gandhi,Prem P. Tripathi

Editorial free to download

Proteomic Alterations by Mutations Involved in Parkinson's Disease and Related Disorders

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 654-655
Author(s): F. Cardona,J. Pérez-Tur

TALEN-Mediated Generation and Genetic Correction of Disease-Specific Human Induced Pluripotent Stem Cells

Journal: Current Gene Therapy
Volume: 14 Issue: 6 Year: 2014 Page: 461-472
Author(s): Sivaprakash Ramalingam,Narayana Annaluru,Karthikeyan Kandavelou,Srinivasan Chandrasegaran

Research Article

Ambroxol Chaperone Therapy for Gaucher Disease Type I-Associated LiverCirrhosis and Portal Hypertension: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 6 Year: 2022 Page: 658-662
Author(s): Run-Ping Gao,Wei Zhang,Shi-Yuan Cui,Mei-Fang Zheng,Peng Zhang

Lysosomal Acid Phosphatase Biosynthesis and Dysfunction: A Mini Review Focused on Lysosomal Enzyme Dysfunction in Brain

Journal: Current Molecular Medicine
Volume: 16 Issue: 5 Year: 2016 Page: 439-446
Author(s): N. Ashtari,X. Jiao,M. Rahimi-Balaei,S. Amiri,S. E. Mehr,B. Yeganeh,H. Marzban

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