Results 81 to 90 of about 7,167 (179)

Next-Generation Sequencing Analysis of GBA1: The Challenge of Detecting Complex Recombinant Alleles

Frontiers in Genetics, 2021
Elizabeth G. Woo, Nahid Tayebi, Ellen Sidransky   +2 more
doaj   +1 more source

Estudo da doença de Gaucher em Santa Catarina Study of Gaucher disease in Santa Catarina

Revista Brasileira de Hematologia e Hemoterapia, 2008
A doença de Gaucher (DG) foi a primeira doença de armazenamento lisossomal descrita e a mais encontrada. Caracteriza-se pela deficiência hereditária da atividade da enzima lisossomal glucocerebrosidase, que bloqueia o metabolismo do glicocerebrosídeo.
Jovino S. Ferreira, Vera Lúcia P. C. Ferreira, David C. Ferreira   +2 more
doaj   +1 more source

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

Biomolecules
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania   +10 more
doaj   +1 more source

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

Molecules
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer).
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai   +10 more
doaj   +1 more source

Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease

Frontiers in Pediatrics
Gaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life.
Vincenza Gragnaniello, Vincenza Gragnaniello, Silvia Carraro, Tiziana Zangardi, Chiara Cazzorla, Daniela Gueraldi, Alberto B. Burlina, Alberto B. Burlina   +7 more
doaj   +1 more source

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Molecular Genetics & Genomic Medicine
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1‐encoded enzyme, β‐glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD).
Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga   +28 more
doaj   +1 more source

Diagnosis and follow-up of the first case of Gaucher disease under enzyme replacement therapy in Senegal. [PDF]

Ghana Med J
Keita M, Faye BF, Senghor AB, Diallo AB, Bousso ES, Touré SA, Seck M, Diop S.   +7 more
europepmc   +1 more source

Crossing the barrier: nanomedicine as a frontier therapy for neuropathic Gaucher disease type 3. [PDF]

Ann Med Surg (Lond)
Saif M, Nasir A, Shafique S, Fatima M, Talha M.   +4 more
europepmc   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism. [PDF]

Mov Disord
Henderson MJ, Chen TC, Glasstetter LM, Chen Y, Marugan JJ, Sidransky E.   +5 more
europepmc   +1 more source

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]

Neurology
Alcalay RN, Mistry P, Di Fonzo A, Batista JL, Bianculli P, Carwile JL, Perichon MG, Balwani M.   +7 more
europepmc   +1 more source