Results 161 to 170 of about 15,101 (190)

New biallelic GBA2 variant in a patient with SPG46.

Clinical Neurology and Neurosurgery, 2020
C. Spagnoli, S. Schiavoni, Susanna Rizzi, G. Salerno, D. Frattini, C. Fusco   +5 more
semanticscholar   +2 more sources

A Rare Case of Hereditary Spastic Paraplegia 46 With Novel Compound Heterozygous GBA2 gene variants (P3-8.013)

Sunday, April 23, 2023
Sandeep Gill, Sukhraj Gill, Madeline Williamson, J. David Avila   +3 more
openalex   +2 more sources

Faculty Opinions recommendation of New biallelic GBA2 variant in a patient with SPG46.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2021
A. Durr
semanticscholar   +2 more sources

Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

Neurological Sciences, 2021
Marta Gatti, Stefania Magri, Daniela Di Bella, Elisa Sarto, Franco Taroni, Caterina Mariotti, Lorenzo Nanetti   +6 more
openalex   +2 more sources

Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2

Neurochemical Research, 2016
The non-lysosomal β-glucosylceramidase GBA2 (EC3.2.1.45, GH116) is ubiquitously expressed in various mammal tissues and cell types where it catalyzes the hydrolysis of glucosylceramide into glucose and ceramide. Although it has been known for many years that the central nervous system is the main site of GBA2 expression and activity, little information
Aureli Massimo, Samarani Maura, Loberto Nicoletta, Mancini Giulia, Murdica Valentina, Chiricozzi Elena, Prinetti Alessandro, Bassi Rosaria, Sonnino Sandro   +8 more
semanticscholar   +5 more sources

Structural basis for inhibition of a GH116 β-glucosidase and its missense mutants by GBA2 inhibitors: Crystallographic and quantum chemical study.

Chemico-Biological Interactions, 2023
The crystal structure of the Thermoanaerobacterium xylanolyticum in glycoside hydrolase family 116 (TxGH116) β-glucosidase provides a structural model for human GBA2 glucosylceramidase, an enzyme defective in hereditary spastic paraplegia and a potential
W. Meelua, Natechanok Thinkumrob, P. Saparpakorn, S. Pengthaisong, S. Hannongbua, J. R. Ketudat Cairns, Jitrayut Jitonnom   +6 more
semanticscholar   +1 more source

Role of GBA2 in Morbus Gaucher

Zeitschrift für Gastroenterologie, 2010
Y Yildiz, S vom Dahl, C Niederau, D Häusinger, A Zimran, F Lammert, T Sauerbruch   +6 more
  +4 more sources

A Novel GBA2 Gene Missense Mutation in Spastic Ataxia

Annals of human genetics, 2014
Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated a consanguineous Cypriot family with spastic ataxia, aiming towards identification of the causative mutation.
Christina Votsi, E. Zamba-Papanicolaou, L. Middleton, M. Pantzaris, K. Christodoulou   +4 more
semanticscholar   +5 more sources

Dystonia as initial presentation of compound heterozygous GBA2 mutations: Expanding the phenotypic spectrum of SPG46.

European Journal of Medical Genetics, 2020
GBA2 associated spastic paraplegia type 46 (SPG46) is an autosomal-recessive disorder associated with a clinical presentation of spastic gait, muscle weakness as well as an array of clinical symptoms including pseudobulbar palsy and progressive cognitive
K. Kloth, C. Cozma, M. Bester, C. Gerloff, S. Biskup, S. Zittel   +5 more
semanticscholar   +1 more source

Phase Change Materials with Piezoelectric-Doped Graphene in GBa2⁺GMn2⁺ Nanocomposites: Advancing Supercapacitor Technology for Next-Generation Energy Storage Devices

IOP Conference Series: Earth and Environment
The study explores the development of advanced nanocomposites, specifically BaTiO3, MnO2, and their hybrids with graphene oxide (GO), to enhance supercapacitor performance. The inclusion of GO led to improved surface area and conductivity, while FTIR and
Surajudeen Sikiru, M. M. Mahat, Niraj Kumar   +2 more
semanticscholar   +1 more source