Results 21 to 30 of about 14,087 (142)

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

Parkinsonism and Related Disorders, 2021
Vikram V Holla, Pramod Pal, Shweta Prasad   +2 more
exaly   +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

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

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 more
europepmc   +2 more sources

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. [PDF]

Ann Clin Transl Neurol
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D.   +11 more
europepmc   +2 more sources

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

Cell & Bioscience, 2022
Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a number of genes,
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou   +15 more
doaj   +1 more source

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

Genes and Diseases, 2021
The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive ...
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer   +5 more
doaj   +1 more source

Effect of Expression of Human Glucosylceramidase 2 Isoforms on Lipid Profiles in COS-7 Cells

Metabolites, 2020
Glucosylceramide (GlcCer) is a major membrane lipid and the precursor of gangliosides. GlcCer is mainly degraded by two enzymes, lysosomal acid β-glucosidase (GBA) and nonlysosomal β-glucosidase (GBA2), which may have different isoforms because of ...
Peeranat Jatooratthawichot, Chutima Talabnin, Lukana Ngiwsara, Yepy Hardi Rustam, Jisnuson Svasti, Gavin E. Reid, James R. Ketudat Cairns   +6 more
doaj   +1 more source

Inhibition of Ceramide Glycosylation Enhances Cisplatin Sensitivity in Cholangiocarcinoma by Limiting the Activation of the ERK Signaling Pathway

Life, 2022
Cholangiocarcinoma (CCA) is an aggressive tumor of the biliary epithelium with poor survival that shows limited response to conventional chemotherapy.
Piyasiri Chueakwon, Peeranat Jatooratthawichot, Krajang Talabnin, James R. Ketudat Cairns, Chutima Talabnin   +4 more
doaj   +1 more source

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.
Hammer, Monia B., Eleuch-Fayache, Ghada, Schottlaender, Lucia V., Nehdi, Houda, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Sailer, Anna, Liu, Guoxiang, Mistry, Pramod K., Cai, Huaibin, Shrader, Ginamarie, Sassi, Celeste, Bouhlal, Yosr, Houlden, Henry, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B.   +18 more
openaire   +2 more sources