PET brain imaging in neurological disorders

L **e, J Zhao, Y Li, J Bai - Physics of Life Reviews, 2024 - Elsevier
Neurological brain disorders are a series of conditions with damage or loss of neurons, such
as Parkinson's disease (PD), Alzheimer's disease (AD), or drug dependence. These …

[HTML][HTML] Fabry disease

A Mehta, DA Hughes - 2022 - europepmc.org
Fabry disease is the most common of the lysosomal storage disorders and results from
deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

F Braun, A Abed, D Sellung, M Rogg, M Woidy… - The Journal of clinical …, 2023 - jci.org
Current therapies for Fabry disease are based on reversing intracellular accumulation of
globotriaosylceramide (Gb3) by enzyme replacement therapy (ERT) or chaperone-mediated …

[HTML][HTML] Plasma and platelet lipidome changes in Fabry disease

B Burla, J Oh, A Nowak, N Piraud, E Meyer, D Mei… - Clinica Chimica …, 2024 - Elsevier
Background Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by
the progressive accumulation of globotriaosylceramide (Gb3) leading to systemic …

Fabry disease and central nervous system involvement: from big to small, from brain to synapse

E Cortés-Saladelafont, J Fernández-Martín… - International Journal of …, 2023 - mdpi.com
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations
in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A …

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease

KL Wallom, ME Fernández-Suárez, DA Priestman… - Glycoconjugate …, 2022 - Springer
It is well established that lysosomal glucocerebrosidase gene (GBA) variants are a risk factor
for Parkinson's disease (PD), with increasing evidence suggesting a loss of function …

X‐linked parkinsonism: phenotypic and genetic heterogeneity

G Di Lazzaro, F Magrinelli, C Estevez‐Fraga… - Movement …, 2021 - Wiley Online Library
X‐linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a
recessive trait, therefore being more prevalent in males. Recent developments have …

Fatigue as hallmark of Fabry disease: role of bioenergetic alterations

J Gambardella, E Riccio, A Bianco… - Frontiers in …, 2024 - frontiersin.org
Fabry disease (FD) is a lysosomal storage disorder due to the impaired activity of the α-
galactosidase A (GLA) enzyme which induces Gb3 deposition and multiorgan dysfunction …

Fabry disease with concomitant Lewy body disease

K Del Tredici, AC Ludolph, S Feldengut… - … of Neuropathology & …, 2020 - academic.oup.com
Although Gaucher disease can be accompanied by Lewy pathology (LP) and
extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another …

[HTML][HTML] Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

M Zedde, R Pascarella, F Cavallieri, FR Pezzella… - Biomedicines, 2022 - mdpi.com
Anderson–Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by
a composite and multisystemic clinical phenotype and frequent involvement of the central …