Results 31 to 40 of about 15,101 (190)

Identification of Novel Prognostic Biomarkers for Colorectal Cancer by Bioinformatics Analysis [PDF]

The Turkish Journal of Gastroenterology
Background/Aims: Colorectal cancer (CRC) ranks third among malignancies in terms of global incidence and has a poor prognosis. The identification of effective diagnostic and prognostic biomarkers is critical for CRC treatment.
Chao Niu, Xiaogang Li, Xian Lei Luo, Hongwei Wan, Wendi Jin, Zhiping Zhang, Wanfu Zhang, Bo Li   +7 more
doaj   +2 more sources

The steady-state level of plasma membrane ceramide is regulated by neutral sphingomyelinase 2 [PDF]

Journal of Lipid Research
During the last 30 years, an increasing number of cellular functions have been reported to be regulated by the lipid ceramide. The diversity in the ceramide structure, leading to tens of ceramide species and the discrete distribution based on subcellular
Anne G. Ostermeyer-Fay, Abhay Kanodia, Ranjana Pathak, Maria Jose Hernandez-Corbacho, Aarnoud C. van der Spoel, Yusuf A. Hannun, Daniel Canals   +6 more
doaj   +2 more sources

Glucosidase-β bile acid 2 (GBA2) [PDF]

Science-Business eXchange, 2014

openalex   +2 more sources

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity [PDF]

The American Journal of Human Genetics, 2013
Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity.
Monia Hammer, Ghada Eleuch-Fayache, Lucía Schottlaender, Houda Nehdi, J. Raphael Gibbs, Sampath K. Arepalli, Sean Chong, Dena Hernández, Anna Sailer, Guoxiang Liu, Pramod K. Mistry, Huaibin Cai, Ginamarie Shrader, Celeste Sassi, Yosr Bouhlal, Henry Houlden, Fayçal Hentati, Rim Amouri, Andrew B. Singleton   +18 more
openalex   +3 more sources

eP095: A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant [PDF]

Genetics in Medicine, 2022
Bharatendu Chandra, Shelby Romoser, Jaclyn Kotlarek, Taylor Warner, Hatem El‐Shanti   +4 more
openalex   +2 more sources

β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology [PDF]

Journal of Biological Chemistry, 2013
β-Glucosidase 2 (GBA2) is an enzyme that cleaves the membrane lipid glucosylceramide into glucose and ceramide. The GBA2 gene is mutated in genetic neurological diseases (hereditary spastic paraplegia and cerebellar ataxia). Pharmacologically, GBA2 is reversibly inhibited by alkylated imino sugars that are in clinical use or are being developed for ...
Christina M. Ridley, K.E. Thur, Jessica Shanahan, Nagendra Babu Thillaiappan, Ann Shen, Karly Uhl, Charlotte M. Walden, Rahimin Affandi Abdul Rahim, Simon N. Waddington, Frances M. Platt, Aarnoud C. van der Spoel   +10 more
openalex   +4 more sources

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS

Molecular Therapy Advances
Michel A. Steiner, Catherine Vaillant, Marco Garzotti, Maria Gulinello, Marisa VanBrakle, Jesper Ryge, Andreas Mühlemann, Kostantin Dobrenis, Richard W.D. Welford   +8 more
openalex   +2 more sources

SPG46 due to truncating mutations in GBA2: Two cases from India. [PDF]

Parkinsonism & Related Disorders, 2020
V. Holla, B. Surisetti, S. Prasad, N. Thota, A. Stezin, P. Pal, R. Yadav   +6 more
semanticscholar   +2 more sources

Synthesis and Biological Evaluation of Deoxycyclophellitols as Human Retaining β-Glucosidase Inhibitors. [PDF]

Chemistry
A series of deoxygenated cyclophellitol derivatives was synthesized and screened against the three human retaining exo‐β‐glucosidases, GBA1, GBA2, and GBA3. From this screen an activity‐based probe (ABP) was identified that, in a concentration‐dependent manner, selectively captures GBA3 over GBA1 and GBA2 in extracts of HEK293T cells overexpressing ...
Radchenko Y, Su Q, Schröder SS, van Gijlswijk L, Artola M, Aerts JMFG, Codée JDC, Overkleeft HS.   +7 more
europepmc   +2 more sources

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]

J Inherit Metab Dis
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K, Singh K, Mitchell M, Walia JS.   +3 more
europepmc   +2 more sources