[HTML][HTML] Prosaposin maintains lipid homeostasis in dopamine neurons and counteracts experimental parkinsonism in rodents

Y He, I Kaya, R Shariatgorji, J Lundkvist… - Nature …, 2023 - nature.com
Prosaposin (PSAP) modulates glycosphingolipid metabolism and variants have been linked
to Parkinson's disease (PD). Here, we find altered PSAP levels in the plasma, CSF and post …

[HTML][HTML] Who is at Risk of Parkinson Disease? Refining the Preclinical Phase of GBA1 and LRRK2 Variant Carriers: a Clinical, Biochemical, and Imaging Approach

E Menozzi, AHV Schapira, F Blandini… - Current Neurology and …, 2023 - Springer
Abstract Purpose of Review Genetic variants in GBA1 and LRRK2 genes are the commonest
genetic risk factor for Parkinson disease (PD); however, the preclinical profile of GBA1 and …

Large chaperone complexes through the lens of nuclear magnetic resonance spectroscopy

TK Karamanos, GM Clore - Annual review of biophysics, 2022 - annualreviews.org
Molecular chaperones are the guardians of the proteome inside the cell. Chaperones
recognize and bind unfolded or misfolded substrates, thereby preventing further …

Microsecond backbone motions modulate the oligomerization of the DNAJB6 chaperone

EE Cawood, GM Clore, TK Karamanos - Angewandte Chemie, 2022 - Wiley Online Library
DNAJB6 is a prime example of an anti‐aggregation chaperone that functions as an
oligomer. DNAJB6 oligomers are dynamic and subunit exchange is critical for inhibiting …

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease

MD Do, TN Tran, AB Luong, LHG Le… - Brain and …, 2023 - Wiley Online Library
Background Genetic factors play a crucial role in the pathogenesis of Parkinson's disease
(PD). However, no comprehensive study has described genetic alterations in Vietnamese …

[HTML][HTML] PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation

M Mahmoud, H Doddapaneni, W Timp, FJ Sedlazeck - Genome biology, 2021 - Springer
Long-read sequencing has been shown to have advantages in structural variation (SV)
detection and methylation calling. Many studies focus either on SV, methylation, or phasing …

[HTML][HTML] The C-terminal domain of the antiamyloid chaperone DNAJB6 binds to amyloid-β peptide fibrils and inhibits secondary nucleation

N Österlund, R Frankel, A Carlsson, D Thacker… - Journal of Biological …, 2023 - ASBMB
The DNAJB6 chaperone inhibits fibril formation of aggregation-prone client peptides through
interaction with aggregated and oligomeric forms of the amyloid peptides. Here, we studied …

[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 …

Expanding the Neurological Phenotype of Anderson–Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with …

M Zedde, I Romani, A Scaravilli, S Cocozza, L Trojano… - Cells, 2024 - mdpi.com
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire
body. Among its manifestation, the involvement of the central and peripheral nervous system …

Genotype by environment interactions for chronic wasting disease in farmed US white-tailed deer

CM Seabury, MA Lockwood, TA Nichols - G3, 2022 - academic.oup.com
Despite implementation of enhanced management practices, chronic wasting disease in US
white-tailed deer (Odocoileus virginianus) continues to expand geographically. Herein, we …