Results 201 to 210 of about 37,115 (298)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

Correction: Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats. [PDF]

Front Vet Sci
Miguel-Garcés M, Gonçalves R, Quintana R, Álvarez P, Beckmann KM, Alcoverro E, Moioli M, Ives EJ, Madden M, Gomes SA, Galban E, Bentley T, Santifort KM, Vanhaesebrouck A, Briola C, Montoliu P, Ibaseta U, Carrera I.   +17 more
europepmc   +1 more source

Newly identified properties of known pharmaceuticals and myxobacterial small molecules revealed by screening for autophagy modulators

The FEBS Journal, EarlyView.
Autophagy is a cellular degradation process involved in, for example, immune responses to pathogens and neurodegeneration. To identify modulators of autophagy, we developed a microscopy‐based screening assay and identified previously unknown autophagy‐modulating activities in known drugs and natural products from myxobacteria and fungi.
Janine Fichtner, Yan Yan Beer, H. G. Mauricio Ramm, Sabrina Mühlen, Frank Surup, Jennifer Herrmann, Toni Luise Meister, Stephanie Pfaender, Ursula Bilitewski, Mark Brönstrup, Rolf Müller, Manfred Wirth, Eeva‐Liisa Eskelinen, Ingo Schmitz   +13 more
wiley   +1 more source

소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

Functional divergence of protein kinase A regulatory subunit Iβ variants: the importance of N3A motifs in PKA regulation

The FEBS Journal, EarlyView.
The regulatory subunit RIβ of protein kinase A occurs in two variants that differ at residue 268 (A268 versus R268). This seemingly small substitution significantly changes cAMP sensitivity, basal kinase activity, and the dynamic behavior of the regulatory domains.
Maximilian Wallbott, Jui‐Hung Weng, Valeria Pane, Yuliang Ma, Jian Wu, Susan S. Taylor, Friedrich W. Herberg   +6 more
wiley   +1 more source

Increased susceptibility and volume reduction in deep brain nuclei in primary orthostatic tremor. [PDF]

BMJ Neurol Open
Af Edholm K, Ouellette R, Sundgren M, Fransén E, Svenningsson A, Granberg T, Sjöström H.   +6 more
europepmc   +1 more source

3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes

The FEBS Journal, EarlyView.
Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut, Danae Campos‐Melo, Michael J. Strong   +2 more
wiley   +1 more source

Holmes Tremor Secondary to a Brainstem Haemorrhage With Partial Symptomatic Improvement Following Levetiracetam Use. [PDF]

Cureus
Lodhia NP, Marstrand C, Bolaji P.
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Variability in intracellular localization of D‐amino acid oxidase in choroid plexus epithelial cells

The FEBS Journal, EarlyView.
D‐amino acid oxidase (DAO) in choroid plexus epithelial cells (CPECs) shows vesicle‐like localization by histological and super‐resolution analyses. DAO colocalizes with peroxisomal, Golgi, endosomal, lysosomal, autophagosomal, and exosomal markers, indicating diverse subcellular distribution. This suggests DAO is transported within CPECs to metabolize
Koji Ono, Yuji Shishido, Toshiyuki Yamagishi, Kiyoshi Fukui   +3 more
wiley   +1 more source