Results 101 to 110 of about 3,185 (196)

Expression of Recombinant Human Glucocerebrosidase Protein in Sunflowers

مجلة بغداد للعلوم, 2019
Molecular farming has become one of the most significant implementations of modern biotechnology to generate modified plant crops to produce medicinal proteins.
Al-Dallee et al.
doaj   +1 more source

Addressing the Challenges of Translating LRRK2 Biology into Disease‐Modifying Therapies: The LRRK2 Investigative Therapeutics Exchange Initiative

Movement Disorders, EarlyView.
Esther Sammler, Francesca Tonelli, Michelle Durborow, Jim McNasby, Todd Sherer, Mahmood Ahmed, Stevan W. Djuric, Kalpana Merchant, Alastair Reith, Darryle Schoepp, Christine Klein, Shalini Padmanabhan, Dario R. Alessi   +12 more
wiley   +1 more source

Sex-Specific Microglial Responses to Glucocerebrosidase Inhibition: Relevance to GBA1-Linked Parkinson’s Disease [PDF]

, 2023
Microglia are heterogenous cells characterized by distinct populations each contributing to specific biological processes in the nervous system, including neuroprotection.
Villa, A, Lucas Del Pozo, S, Brunialti, E, Ciana, P, Schapira, AHV, Toffoli, M, Rizzi, N, Meda, C, Maggi, A   +8 more
core  

Novel mechanisms of autophagy-lysosome dysfunction in GBA1 Parkinson disease

Parkinson disease (PD) is the most common neurodegenerative movement disorder, with clinical manifestations of motor impairments and pathologic manifestations of accumulated alpha-synuclein in vulnerable neuronal populations.
Tewari, Shailvi
core   +1 more source

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Stem Cell Reports, 2017
Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang, Michelle Beavan, Kai-Yin Chau, Jan-Willem Taanman, Anthony H.V. Schapira   +4 more
doaj   +1 more source

Análise do gene GBA1 em pacientes com mieloma múltiplo [PDF]

, 2018
Introdução: O mieloma múltiplo (MM) é uma gamopatia maligna, ou seja, uma condição de produção anormal de imunoglobulina causada por um clone de célula B plasmocitária que prolifera descontroladamente. Esta doença representa 1% de todos os cânceres, e 10%
Caldeira, Raíssa Pereira
core  

GBA1 under the microscope: exploring GBA1 mutations role in organelles’ dysfunction, and potential recovery through pharmacological chaperones

reservedThis thesis investigates the GBA1 gene, which encodes Glucocerebrosidase (GCase), a lysosomal enzyme critical for glucosylceramide and cholesterol metabolism.
SANSONETTI, FRANCA
core  

Additional file 5 of Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration

Supplementary Material ...
Gu, Mingxue, Zhao, Jinghan, Deng, Mingxi, Lin, Guang, Pan, Xueyang, Lin, Wenwen, Ma, Mengqi, Kim, Jinyong, Byeon, Seul Kee, Pandey, Akhilesh, Lange, Lara M., Shaw, Chad A., Kim, Jonggeol, Trinh, Joanne, Klein, Christine, Kanca, Oguz, Shulman, Joshua M., Bellen, Hugo J.   +17 more
openaire   +1 more source

GBA1 varyantları ve Parkinson Hastalığı: Klinik veriler ve literatür incelemesini birleştiren çift yaklaşım

Amaç: Parkinson hastalığında (PH) önemli bir duyarlılık geni olan ve Gaucher hastalığıyla yakından ilişkili olan GBA1 (ENSG00000177628) geni, son yirmi yılda önemli bir araştırma ilgisi topladı.
Şenol, Mehmet Güney, GULSEVEN, Muhammed-Fatih, Mert, Goncagul, Canbek, Sezin, Gülseven, Muhammed Fatih   +4 more
core   +1 more source

GBA1 MUTATIONS ALTER NEURONAL FUNCTION AND STRUCTURE OF iPSC-DERIVED NEURONS FROM PARKINSON¿S DISEASE PATIENTS.

, 2023
Comunicación presentada a Global Summit on Neurodegenerative Diseases NEURO 2020/2022Mutations in the glucocerebrosidase1 (GBA1) gene are major risk factors for Parkinson¿s disease (PD) and dementia with Lewy bodies.
Rodríguez-Traver, Eva, Suárez, Luz M., González-Burgos, I., Díaz-Guerra, Eva, Vicario-Abejón, Carlos, Moratalla, Rosario, Crespo, Carlos, Jurado-Coronel, Juan C.   +7 more
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