Results 71 to 80 of about 319,447 (239)

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Coordinated Role of Autophagy and ERAD in Maintaining Neuroendocrine Function by Preventing Prohormone Aggregation

Advanced Science, EarlyView.
By studying the maturation mechanisms of vasopressin (AVP), this manuscript identifies FAM134B‐mediated ER‐phagy as a critical pathway for degrading both aggregated proAVP and the key ERAD component, HRD1. HRD1 induction mitigates proAVP aggregation and support AVP neuron function in the absence of autophagy.
Xuya Pan, Xing He, Su Wu, Na Xiong, Xinyu Hou, Heting Wang, Diane Somlo, Martin Spiess, Haiyang Wang, Jifeng Yang, Chunliang Li, Shasha Li, Wenbin Ma, Yanming Chen, Jun Cui, Ling Qi, Guojun Shi   +16 more
wiley   +1 more source

A fruitful fly forward : the role of the fly in drug discovery for neurodegeneration [PDF]

, 2014
AD, Alzheimer’s disease; APP, amyloid precursor protein; BBB, blood brain barrier; GFP, green fluorescent protein; HTS, high-throughput screening; HD, Huntington’s disease; LB, Lewy bodies; PD, Parkinson’s disease; PolyQ, Polyglutamine; RNAi, RNA ...
Briffa, Michelle, Cauchi, Ruben J., Vassallo, Neville   +2 more
core   +1 more source

Key Connectomes and Synaptic‐Compartment‐Specific Risk Genes Drive Pathological α‐Synuclein Spreading

Advanced Science, EarlyView.
Utilizing a stereotaxic injection mouse model and a novel mathematical approach, this study uncovers key subnetworks that drive pathological α‐synuclein (α‐Syn) progression in Parkinson's disease (PD). Remarkably, just 2% of the strongest connections in the connectome are sufficient to predict its spread.
Yuanxi Li, Justin Torok, Shujing Zhang, Jessica Ding, Ning Wang, Courtney Lau, Shruti Kulkarni, Chaitali Anand, Julie Tran, Michael Cheng, Claire Lo, Binbin Lu, Yanzi Sun, Robert Damoiseaux, Xia Yang, Ashish Raj, Chao Peng   +16 more
wiley   +1 more source

Preferential tau aggregation in von Economo neurons and fork cells in frontotemporal lobar degeneration with specific MAPT variants. [PDF]

, 2019
Tau aggregation is a hallmark feature in a subset of patients with frontotemporal dementia (FTD). Early and selective loss of von Economo neurons (VENs) and fork cells within the frontoinsular (FI) and anterior cingulate cortices (ACC) is observed in ...
Coppola, Giovanni, Cosme, Celica G, Gan, Li, Gaus, Stephanie E, Geschwind, Daniel H, Grinberg, Lea T, Hepker, Mackenzie, Hwang, Ji-Hye Lee, Lin, Li-Chun, Miller, Bruce L, Nana, Alissa L, Rosen, Howard J, Seeley, William W, Spina, Salvatore   +13 more
core   +1 more source

LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate [PDF]

, 2016
Background Lrrk2, a gene linked to Parkinson\u2019s disease, encodes a large scaffolding protein with kinase and GTPase activities implicated in vesicle and cytoskeletal-related processes.
Arrigoni, Giorgio, Belluzzi, Elisa, Beltramini, Mariano, Bubacco, Luigi, Carrion, Maria Per\ue8z, Cirnaru, Maria Daniela, Civiero, Laura, Cogo, Susanna, Franchin, Cinzia, Gonnelli, Adriano, Greggio, Elisa, Marte, Antonella, Onofri, Franco, Piccoli, Giovanni, Plotegher, Nicoletta, Russo, Isabella   +15 more
core   +5 more sources

PSMD14 Stabilizes SLC7A11 to Ameliorate Glucocorticoid‐Induced Osteoporosis by Suppressing Osteocyte Ferroptosis

Advanced Science, EarlyView.
Glucocorticoid‐induced osteoporosis (GIOP) triggers osteocyte ferroptosis via SLC7A11 degradation. PSMD14 stabilizes SLC7A11 by counteracting glucocorticoid‐driven ubiquitination, preserving cystine uptake and glutathione synthesis. AAV‐mediated PSMD14 delivery or its agonist Pantethine rescues osteocyte survival and bone loss in GIOP mice.
Yifeng Shi, Qian Tang, Sunren Sheng, Hongyi Jiang, Chen Jin, Chencheng Zhou, Chenglong Xie, Lin Zheng, Di Zhang, Hui Xu, Cong Xu, Haiwei Ma, Guangheng Xiang, Wenfei Ni, Xiaoyun Pan, Lei Yang, Huazi Xu, Yu Qian, Aimin Wu, Xiangyang Wang, Gang Zheng   +20 more
wiley   +1 more source

Neuroprotection targeting protein misfolding on chronic cerebral hypoperfusion in the context of metabolic syndrome [PDF]

, 2018
Metabolic syndrome (MetS) is a cluster of risk factors that lead to microvascular dysfunction and chronic cerebral hypoperfusion (CCH). Long-standing reduction in oxygen and energy supply leads to brain hypoxia and protein misfolding, thereby linking CCH
Capani, Francisco, Herrera, María Inés, Kusnier, Carlos Federico, Luaces, Juan Pablo, Otero-Losada, Matilde Estela, Toro Urrego, Nicolás, Udovin, Lucas   +6 more
core   +1 more source

Listerin Alleviates Alzheimer's Disease through IRE1‐mediated Decay of TLR4 mRNA

Advanced Science, EarlyView.
Alzheimer's disease (AD) progression is influenced by microglia‐mediated neuroinflammation. Here, it is demonstrated that Listerin suppresses neuroinflammatory signaling and cognitive impairment in AD models by triggering IRE1α‐mediated TLR4 mRNA decay. Adenoviral Listerin delivery reduces amyloid‐β pathology, positioning it as a new therapeutic target.
Fei Qin, Runyu Cao, Xuemei Bai, Jiahua Yuan, Wanwei Sun, Yi Zheng, Xiaopeng Qi, Wei Zhao, Bingyu Liu, Chengjiang Gao   +9 more
wiley   +1 more source

Metals and neurodegeneration [PDF]

Neurobiology of Disease, 2015
Aizenman, Elias, MASTROBERARDINO, PIER GIORGIO   +1 more
openaire   +6 more sources