Bayer, Cathrin Pitschelatow, Georg Hannemann, Nina Linde, Jenice Reichard, Julia Pensold, Daniel Zimmer-Bensch, Geraldine
Published in
International Journal of Molecular Sciences
The limited regenerative capacity of neurons requires a tightly orchestrated cell death and survival regulation in the context of longevity, as well as age-associated and neurodegenerative diseases. Subordinate to genetic networks, epigenetic mechanisms, such as DNA methylation and histone modifications, are involved in the regulation of neuronal f...
Squitieri, Ferdinando Mazza, Tommaso Maffi, Sabrina De Luca, Alessandro AlSalmi, Qasem AlHarasi, Salma Collins, Jennifer A. Kay, Chris Baine-Savanhu, Fiona Landwhermeyer, Bernard G.
...
Published in
Genetics in Medicine
PurposeWe aimed to determine the origin and genetic characteristics of Huntington disease (HD) in the Middle East.MethodsWe performed genetic and genealogical analyses to establish the ancestral origin of the HTT pathgenic variant from a large kindred from Oman (hereafter called the OM-HD-01 pedigree) by single-nucleotide polymorphism and dense hap...
Apolinário, Thays A da Silva, Iane Dos Santos Agostinho, Luciana de Andrade Paiva, Carmen L A
Published in
Molecular genetics & genomic medicine
Huntington disease (HD) (MIM: 143100) is a severe autosomal dominant neurodegenerative disease caused by the expansion of CAG trinucleotides (>35) in the HTT. To investigate the frequency of intermediate CAG alleles (IAs) in individuals residing in Rio de Janeiro city with no familial history of HD (general population, GP) in comparison with a samp...
Marquilly, Claire Busto, Germain Leger, Brittany Giniger, Edward Walker, James Fradkin, Lee Dura, Jean-Maurice
ABL tyrosine kinase activity controls several aspects of development including axon patterning. Amyloid precursor protein (APP) is linked to Alzheimer's disease and previous work established that ABL is a downstream effector in an Appl, the Drosophila App ortholog, signaling pathway which modulates axon outgrowth in the mushroom bodies (MBs), the f...
Tambones, Izabella L. Haudry, Annabelle Simão, Maryanna C. Carareto, Claudia M. A.
Published in
Mobile DNA
BackgroundThe use of large-scale genomic analyses has resulted in an improvement of transposable element sampling and a significant increase in the number of reported HTT (horizontal transfer of transposable elements) events by expanding the sampling of transposable element sequences in general and of specific families of these elements in particul...
Chen, Zhan Yu, Guangwei Wang, Yin Liu, Xuejiao Wang, Xingdong
Published in
Waste management (New York, N.Y.)
To explore a feasible method of utilizing municipal solid waste incineration fly ash (IFA) rather than releasing it into solidified landfill, in this work, IFA was pretreated by mixing it with municipal sewage sludge (MSS) and applying hydrothermal treatment (HTT). The influences of the IFA dosage, HTT temperature, HTT time, and liquid to solid rat...
Garcia, Veronica J Rushton, David J Tom, Colton M Allen, Nicholas D Kemp, Paul J Svendsen, Clive N Mattis, Virginia B
Published in
Frontiers in neuroscience
In Huntington's disease (HD), while the ubiquitously expressed mutant Huntingtin (mtHTT) protein primarily compromises striatal and cortical neurons, glia also undergo disease-contributing alterations. Existing HD models using human induced pluripotent stem cells (iPSCs) have not extensively characterized the role of mtHTT in patient-derived astroc...
Tousley, Adelaide Iuliano, Maria Weisman, Elizabeth Sapp, Ellen Zhang, Ningzhe Vodicka, Petr Alexander, Jonathan Aviolat, Hubert Gatune, Leah Reeves, Patrick
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Published in
Journal of Huntington's disease
Previous studies suggest that Huntingtin, the protein mutated in Huntington's disease (HD), is required for actin based changes in cell morphology, and undergoes stimulus induced targeting to plasma membranes where it interacts with phospholipids involved in cell signaling. The small GTPase Rac1 is a downstream target of growth factor stimulation a...
Tousley, Adelaide Khvorova, Anastasia Aronin, Neil Kegel-Gleason, Kimberly B.
BACKGROUND: Previous studies suggest that Huntingtin, the protein mutated in Huntington's disease (HD), is required for actin based changes in cell morphology, and undergoes stimulus induced targeting to plasma membranes where it interacts with phospholipids involved in cell signaling. The small GTPase Rac1 is a downstream target of growth factor s...
Srirama, Krupanidhi Vineela, J. Tejaswi, K. Thanmayi, M. N.
Published in
International Journal of Health Sciences
Background: The disease that obstructs social movements of people is Huntington’s disease (HD). Hence, the expedition of its molecular aspects and bioinformatics tools relating to precise confirmation of the disease is warranted. Due to social stigma, the care and attention to safeguard these patients had increased at community level. Objective: Th...
