Results 321 to 330 of about 1,144,970 (369)

Novel neuropathological observations in an adult with Dravet syndrome

Epilepsia, EarlyView.
Abstract Dravet syndrome (DS) is a developmental and epileptic encephalopathy associated with pathogenic variants in the SCN1A gene. The neuropathological features of adult DS remain poorly understood. We report the postmortem findings of a 55‐year‐old woman with DS due to a confirmed SCN1A pathogenic variant leading to Nav1.1 loss of function ...
Danielle M. Andrade, Anne S. Bassett, Quratulain ZulfiqarAli, Victor S. T. Lira, Nikolai Gil Reyes, M. Carmela Tartaglia, Alfonso Fasano, Gabor G. Kovacs   +7 more
wiley   +1 more source

Conformational Switch in the Alpha-Synuclein C-Terminal Domain Directs Its Fibril Polymorphs. [PDF]

Chemistry
Aguirre C, Miyanoiri Y, So M, Tamaki H, Maruno T, Doi J, Wang N, Yamaguchi K, Nakajima K, Yamamori Y, Inoura H, Choong CJ, Kakuda K, Ajiki T, Kimura Y, Ozono T, Baba K, Nagano S, Nagai Y, Ogi H, Uchiyama S, Matsuki Y, Tomii K, Goto Y, Ikenaka K, Mochizuki H.   +25 more
europepmc   +1 more source

Effect of Spermidine on Misfolding and Interactions of Alpha-Synuclein

, 2012
Alexey V. Krasnoslobodtsev, Jie Peng, Josephat M. Asiago, Jagadish Hindupur, Jean‐Christophe Rochet, Yuri L. Lyubchenko   +5 more
openalex   +2 more sources

Type I interferon signalling and interferon‐responsive microglia in health and disease

The FEBS Journal, EarlyView.
Recent insights reveal that type I interferon (IFN‐I) signalling plays critical roles in the nervous system beyond antiviral defence. Dysregulated IFN‐I activity is increasingly linked to neurological dysfunction and neurodegeneration, with microglia as central mediators. This review explores the broader impact of IFN‐I signalling on the nervous system
Jose P. Lopez‐Atalaya, Aysha M. Bhojwani‐Cabrera   +1 more
wiley   +1 more source

The role of alpha-synuclein in synucleinopathy: Impact on lipid regulation at mitochondria-ER membranes. [PDF]

NPJ Parkinsons Dis
Barbuti PA, Guardia-Laguarta C, Yun T, Chatila ZK, Flowers X, Wong C, Santos BFR, Larsen SB, Lotti JS, Hattori N, Bradshaw E, Dettmer U, Fanning S, Menon V, Reddy H, Teich AF, Krüger R, Area-Gomez E, Przedborski S.   +18 more
europepmc   +1 more source

Cytoprotective effect of chlorogenic acid against α-synuclein-related toxicity in catecholaminergic PC12 cells

, 2012
Mari Teraoka, Kazuhiro Nakaso, Chiaki Kusumoto, Satoshi Katano, Naoko Tajima, Atsushi Yamashita, Teppei Zushi, Satoru Ito, Tatsuya Matsura   +8 more
openalex   +2 more sources

Hydrophobic residues in the α‐synuclein NAC domain drive seed‐competent fibril formation and are targeted by peptide inhibitors

The FEBS Journal, EarlyView.
The hydrophobic 68GAVV71 stretch in the NAC domain of α‐synuclein is essential for nucleation, while residues 79–95 are required for fibril stability and seeding. Truncation or inhibition of 68GAVV71 prevents fibril formation, and truncation of 79–95 abolishes seeding competency, highlighting their distinct roles in α‐synuclein aggregation and ...
Viswanath Das, Sayed Mostafa Modarres Mousavi, Narendran Annadurai, Sunčica Sukur, Faramarz Mehrnejad, Sajad Moradi, Lukáš Malina, Markéta Kolaříková, Vaclav Ranc, Ivo Frydrych, Roman Kouřil, Saman Hosseinkhani, Marián Hajdúch, Maryam Nikkhah   +13 more
wiley   +1 more source

Toward alpha-synuclein seed amplification assay in clinical practice. [PDF]

Alzheimers Dement (Amst)
Verdurand M, Kaczorowski F, Dautricourt S, Desestret V, Formaglio M, Mollion H, Petitnicolas G, Afifi A, Fourier A, Garnier-Crussard A, Quadrio I.   +10 more
europepmc   +1 more source

TDP‐43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models

The FEBS Journal, EarlyView.
The manuscript explores structural and functional features of TDP‐43 and its worm homologue, TDP‐1, highlighting conserved and divergent structural and functional features. Using genetically engineered C. elegans models, key pathological features of TDP‐43 proteinopathies—including aggregation, neurodegeneration, and motor deficits—are recapitulated ...
Ghulam Jeelani Pir, Joerg Buddenkotte, Majid Ali Alam, Ahmed Own, Randall J. Eck, Brian C. Kraemer, Eckhard Mandelkow, Martin Steinhoff   +7 more
wiley   +1 more source