scholarly journals Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases

2018 ◽  
Vol Volume 14 ◽  
pp. 2067-2085 ◽  
Author(s):  
Eva Bagyinszky ◽  
Vo Van Giau ◽  
Youn Chul Youn ◽  
Seong Soo A An ◽  
SangYun Kim
Author(s):  
Raphael Antonio Caface ◽  
Marcelo Saito Nogueira ◽  
Francisco E. Gontijo Guimarães ◽  
Vanderlei Salvador Bagnato ◽  
Fabio Francisco Pinto ◽  
...  

2021 ◽  
Author(s):  
Gabriel Lopes ◽  
Diego Lico

In previous works, we characterized a novel, strongly basic, squid hnRNPA/B-like Protein 2 in presynaptic terminals of squid neurons. Here, we show that squid hnRNPA/B-like Protein 2 are exclusively nuclear localization and relocated to cytoplasmic granules containing hnRNPA1 and Poly-A binding protein-1 (PABP-1) when the cells are treated with sorbitol. Also, we show an interaction of hnRNPA/B like Protein 2 with squid RNA, its interfered with dynamic of formation of hnRNPA/B like Protein 2 dimers, whereas possibly involved disulfide bounds and postranslations modification in a distinct stage of dimers formation. An understanding of the molecular and biochemical mechanisms involved in the stability of the dimeric form, and the regulation of the transition between monomeric and dimeric forms may bring insights into evolution of several neurodegenerative diseases.


1993 ◽  
Vol 14 (6) ◽  
pp. 539-545 ◽  
Author(s):  
Robert W. Hamill ◽  
William R. Markesbery ◽  
Keith McDaniel ◽  
Paul D. Coleman

2005 ◽  
Vol 102 (38) ◽  
pp. 13433-13438 ◽  
Author(s):  
R. S. Armen ◽  
B. M. Bernard ◽  
R. Day ◽  
D. O. V. Alonso ◽  
V. Daggett

Author(s):  
Maria Francesca Ottaviani ◽  
Michela Cangiotti ◽  
Barbara Klajnert-Maculewicz ◽  
Anne-Marie Caminade ◽  
Jean-Pierre Majoral

2011 ◽  
Vol 1 (1) ◽  
pp. 6 ◽  
Author(s):  
Fulvio Lauretani ◽  
Paolo Caffarra ◽  
Livia Ruffini ◽  
Anna Nardelli ◽  
Gian Paolo Ceda ◽  
...  

In the literature there is need of clinical and instrumental characterization of all neurodegenerative diseases. Particular attention deserves the timing of the onset of motor or cognitive symptoms, which is extremely useful issue giving the frequent overlapping between neurodegenerative diseases. Aim of this review is to provide a description of typical clinical and imaging features of all neurodegenerative diseases, especially idiopathic Parkinson’s disease (PD) and Alzheimer’s disease (AD). Particular attention will be devoted to the cluster of symptoms at the moment of the diagnosis. Based on early starting symptoms (cognitive or extrapiramidal) we will introduce criteria to differentiate AD from fronto-Temporal Dementia (FTD), Lewy bodies dementia (DLB) and Vascular dementia (VaD), and between PD, Vascular Parkinsonism (VP) and DLB. All these diseases are characterized by cognitive deficits. PD will be suspected if cognitive impairment occurs at least one year after the onset of the motor symptoms while VP and DLB are more likely if cognitive deficits and motor symptoms appear simultaneously. Finally, we will focus on parkinsonian signs plus other motor symptoms at the time of the diagnosis. The presence of cerebellar or pyramidal signs, with falls and autonomic dysfunction, with or without cognitive deficit should help to consider potential causes of atypical parkinsonism including cortical-basal degeneration (CBD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP).


eLife ◽  
2017 ◽  
Vol 6 ◽  
Author(s):  
Jeremy A Miller ◽  
Angela Guillozet-Bongaarts ◽  
Laura E Gibbons ◽  
Nadia Postupna ◽  
Anne Renz ◽  
...  

As more people live longer, age-related neurodegenerative diseases are an increasingly important societal health issue. Treatments targeting specific pathologies such as amyloid beta in Alzheimer’s disease (AD) have not led to effective treatments, and there is increasing evidence of a disconnect between traditional pathology and cognitive abilities with advancing age, indicative of individual variation in resilience to pathology. Here, we generated a comprehensive neuropathological, molecular, and transcriptomic characterization of hippocampus and two regions cortex in 107 aged donors (median = 90) from the Adult Changes in Thought (ACT) study as a freely-available resource (http://aging.brain-map.org/). We confirm established associations between AD pathology and dementia, albeit with increased, presumably aging-related variability, and identify sets of co-expressed genes correlated with pathological tau and inflammation markers. Finally, we demonstrate a relationship between dementia and RNA quality, and find common gene signatures, highlighting the importance of properly controlling for RNA quality when studying dementia.


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