Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy

Gaucher disease (GD) is the most frequent sphingolipidosis, caused by biallelic pathogenic variants in the <i>GBA1</i> gene encoding for β-glucocerebrosidase (GCase, E.C. 3.2.1.45). The condition is characterized by hepatosplenomegaly, hematological abnormalities, and bone disease in both non-neuron...

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Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Paweł Dubiela, Paulina Szymańska-Rożek, Andrzej Eljaszewicz, Patryk Lipiński, Piotr Hasiński, Dorota Giersz, Alicja Walewska, Marlena Tynecka, Marcin Moniuszko, Anna Tylki-Szymańska
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	MDPI AG 2023-04-01
Rangatū:	Biomolecules
Ngā marau:	Gaucher disease Parkinson’s disease glucosylsphingosine α-synuclein enzyme replacement therapy
Urunga tuihono:	https://www.mdpi.com/2218-273X/13/4/644
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!