Results 41 to 50 of about 15,101 (190)

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

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia [PDF]

The American Journal of Human Genetics, 2013
Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to ...
Elodie Martin, Rebecca Schüle, Katrien Smets, Agnès Rastetter, Amir Boukhris, José Leal Loureiro, Michael Gonzalez, Emeline Mundwiller, Tine Deconinck, Marc Wessner, Ludmila Jornéa, Andrés Caballero-Oteyza, Alexandra Dürr, Jean‐Jacques Martin, Lüdger Schöls, Chokri Mhiri, Foudil Lamari, Stephan Züchner, Peter De Jonghe, Edor Kabashi, Alexis Brice, Giovanni Stévanin   +21 more
  +9 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

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

Gaucher disease, state of the art and perspectives. [PDF]

J Intern Med
Abstract Knowledge about Gaucher disease (GD), considered a model for rare diseases, has considerably increased since its discovery. The pathophysiology of this lysosomal disorder is better known, and specific therapies that can control many aspects of the disease have been developed, particularly for the most common form, Type 1 GD.
Camou F, Berger MG.
europepmc   +2 more sources

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

The role of GBA2 in controlling locomotor activity

, 2018
Glycosphingolipide sind Hauptbestandteile zellulärer Membranen und erfüllen sowohl strukturelle als auch funktionelle Aufgaben. Modifizierungen des einfachen Glycosphingolipids Glucosylceramid (GlcCer) bringen zahlreiche komplexe glycosylierte und sialylierte Glycosphingolipide hervor, die besonders im zentralen Nervensystem (ZNS) vorkommen.
Marina A. Woeste
openalex   +4 more sources

PENGUATAN IDENTITAS DIGITAL KWT DEWI SRI GBA2 MELALUI WEB PROFILE DAN GOOGLE MYBUSINES

Community Development Journal : Jurnal Pengabdian Masyarakat
Komunitas Griya Bandung Asri 2 (GBA2) secara aktif berkontribusi pada pengembangan ekonomi dan pariwisata komunitas. Namun, tantangan utama dalam mencapai penetrasi pasar adalah kurangnya strategi promosi online dan manajemen identitas digital. Program Penguatan Identitas Digital KWT Dewi Sri GBA2 melalui Profil Web dan Google MyBusiness bertujuan ...
Wardani Muhamad, Robbi Hendriyanto, Heru Nugroho, Rixard George Dillak, M Yusuf Ramadhan, Taufan Umbara   +5 more
openalex   +4 more sources

Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

Journal of Lipid Research, 2019
μ-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by ...
Lindsey T. Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J. Ferraz, Remco E.A. Peter, Hisako Akiyama, Peter Greimel, Richard J.B.H.N. van den Berg, Herman S. Overkleeft, Rolf G. Boot, Annemarie H. Meijer, Johannes M.F.G. Aerts   +12 more
doaj   +1 more source

Assessment of Target Engagement in a First‐in‐Human Trial with Sinbaglustat, an Iminosugar to Treat Lysosomal Storage Disorders

Clinical and Translational Science, 2021
In this first‐in‐human study, the tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of single and multiple oral doses of sinbaglustat, a dual inhibitor of glucosylceramide synthase (GCS) and non‐lysosomal glucosyl ceramidase (GBA2), were ...
Martine Gehin, Meggane Melchior, Richard W.D. Welford, Patricia N. Sidharta, Jasper Dingemanse   +4 more
doaj   +1 more source