Results 11 to 20 of about 14,130 (212)
Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency [PDF]
Brain Sciences, 2019 In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped
Emilia M. Gatto +4 more
doaj +3 more sources
Mitochondrial dysfunction associated with glucocerebrosidase deficiency [PDF]
Neurobiology of Disease, 2016 The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder.
Gegg, ME, Schapira, AH
core +5 more sources
Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management. [PDF]
J DermatolABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Sakai T.
europepmc +2 more sources
Glucocerebrosidase mutations and Parkinson disease
Journal of Neural Transmission, 2022 AbstractThe discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape. Efforts to elucidate the mechanisms behind GBA1-associated PD have highlighted shared pathways in idiopathic PD including the loss and gain ...
Vieira, Sophia R. L. +1 more
openaire +2 more sources
Photoswitchable inhibitors of human β-glucocerebrosidase [PDF]
Organic & Biomolecular Chemistry, 2022 Towards human GCase activity enhancement by means of light responsive inhibitors.
Maria Giulia Davighi +8 more
openaire +3 more sources
Glucocerebrosidase Mutations in Gaucher Disease [PDF]
Molecular Medicine, 1994 Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified.
E, Beutler, A, Demina, T, Gelbart
openaire +2 more sources
Parkinsonism Associated with Glucocerebrosidase Mutation [PDF]
Journal of Clinical Neurology, 2011 Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD).
Sunwoo, Mun-Kyung +3 more
openaire +3 more sources
Gaucher disease: achievements and prospects
Терапевтический архив, 2021 Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
doaj +1 more source
Neurobiology of Disease, 2019 Synucleinopathies including Parkinson's disease (PD) and Dementia with Lewy bodies (DLB) are characterized by the accumulation of abnormal α-synuclein in intraneuronal inclusions, named Lewy bodies.
Anna Lisa Gündner +8 more
doaj +1 more source
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source