RSS Feed – Literature

Front Cell Dev Biol. 2021 Mar 4;9:611773. doi: 10.3389/fcell.2021.611773. eCollection 2021.ABSTRACTTransient receptor potential (TRP) channels are transmembrane protein complexes that play important roles in the physiology and pathophysiology of both the central nervous system (CNS) and the peripheral nerve system (PNS). TRP channels function as non-selective cation channels that are ... read more

Mov Disord. 2021 Mar;36(3):787-788. doi: 10.1002/mds.28503.NO ABSTRACTPMID:33749919 | DOI:10.1002/mds.28503 ... read more

Brain Res. 2021 Mar 18:147444. doi: 10.1016/j.brainres.2021.147444. Online ahead of print.ABSTRACTHuntington's disease (HD) is an inherited neurodegenerative disorder which begins in the striatum and then spreads to other neural areas. Known as a progressive movement cognitive disorder, HD has no efficient therapy. Although the exact mechanism of HD is still ... read more

Clin Exp Pharmacol Physiol. 2021 Mar 22. doi: 10.1111/1440-1681.13500. Online ahead of print.ABSTRACTMany neurodegenerative diseases are associated with pathological aggregation of proteins in neurons. Autophagy is a natural self-cannibalization process that can act as a powerful mechanism to remove aged and damaged organelles as well as protein aggregates. It has ... read more

Life Sci. 2021 Mar 18;275:119358. doi: 10.1016/j.lfs.2021.119358. Online ahead of print.ABSTRACTHuman neurodegenerative polyglutamine [poly(Q)] disorders, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA), are characterised by an abnormal expansion of CAG repeats in the affected gene. The mutated proteins misfold and aggregate to form inclusion bodies that sequester important ... read more

Ann Neurol. 2021 Mar 21. doi: 10.1002/ana.26069. Online ahead of print.ABSTRACTOBJECTIVE: Mutant expansions of DNA CAG ≥32 repeats in ATXN2 can be a rare cause of Parkinson disease and Amyotrophic lateral sclerosis (ALS). We recently reported that the stress granule (SG) protein Staufen1 (STAU1) was overabundant in neurodegenerative disorder SCA2 ... read more

Mol Ther Nucleic Acids. 2021 Feb 15;24:1-10. doi: 10.1016/j.omtn.2021.02.007. eCollection 2021 Jun 4.ABSTRACTPolyglutamine (polyQ) diseases are inherited neurodegenerative disorders caused by expansion of cytosine-adenine-guanine (CAG)-trinucleotide repeats in causative genes. These diseases include spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxias. Targeting expanded CAG repeats is ... read more

ACS Med Chem Lett. 2021 Feb 11;12(3):380-388. doi: 10.1021/acsmedchemlett.0c00532. eCollection 2021 Mar 11.ABSTRACTUsing an iterative structure-activity relationship driven approach, we identified a CNS-penetrant 5-(trifluoromethyl)-1,2,4-oxadiazole (TFMO, 12) with a pharmacokinetic profile suitable for probing class IIa histone deacetylase (HDAC) inhibition in vivo. Given the lack of understanding of endogenous class IIa ... read more

Med Res Rev. 2021 Mar 18. doi: 10.1002/med.21784. Online ahead of print.ABSTRACTGalectins are soluble β-galactoside-binding proteins found in all multicellular organisms. Galectins may act as danger-associated molecular patterns in innate immunity and/or as pattern-recognition receptors that bind to pathogen-associated molecular patterns. Among different galectin family members, galectin-3 has been the ... read more

Autophagy. 2021 Mar 18:1-19. doi: 10.1080/15548627.2021.1898748. Online ahead of print.ABSTRACTIncreased macroautophagy/autophagy and lysosomal activity promote tumor growth, survival and chemo-resistance. During acute starvation, autophagy is rapidly engaged by AMPK (AMP-activated protein kinase) activation and MTOR (mechanistic target of rapamycin kinase) complex 1 (MTORC1) inhibition to maintain energy homeostasis and cell ... read more

JAAPA. 2021 Apr 1;34(4):26-31. doi: 10.1097/01.JAA.0000735740.95438.60.ABSTRACTHuntington disease is a rare genetic disorder characterized by motor, cognitive, and psychiatric impairments. Although the typical patient has a positive family history and initially presents with chorea between ages 30 and 50 years, some patients do not have a typical presentation. Healthcare providers should ... read more

Sci Rep. 2021 Mar 17;11(1):6157. doi: 10.1038/s41598-021-85279-2.ABSTRACTHuntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of huntingtin (HTT). While there are currently no disease-modifying treatments for HD, recent efforts have focused on the development of nucleotide-based therapeutics to lower HTT expression. As an ... read more

Neuroscience. 2021 Mar 13:S0306-4522(21)00133-0. doi: 10.1016/j.neuroscience.2021.03.009. Online ahead of print.ABSTRACTCognitive dysfunction often accompanies diabetes. Both hypoglycemia and hyperglycemia cause cognitive dysfunctions. However, the underlying pathophysiology remains unclear. Recent evidence show that ferroptosis primarily triggers nerve cell death, Alzheimer's disease (AD), Huntington's disease (HD), and Parkinson's disease (PD). The present study ... read more

PLoS Genet. 2021 Mar 17;17(3):e1009415. doi: 10.1371/journal.pgen.1009415. eCollection 2021 Mar.ABSTRACTNeurodegenerative diseases are characterized by neuron loss and accumulation of undegraded protein aggregates. These phenotypes are partially due to defective protein degradation in neuronal cells. Autophagic clearance of aggregated proteins is critical to protein quality control, but the underlying mechanisms are ... read more

Neurol Sci. 2021 Mar 16. doi: 10.1007/s10072-021-05169-3. Online ahead of print.ABSTRACTINTRODUCTION: The study aims at investigating psychometric properties of the Edinburgh cognitive and behavioural ALS screen (ECAS) in Parkinson's (PD) and Huntington's (HD) diseases. The sensitivity and specificity of the ECAS in highlighting HD and PD cognitive-behavioural features and in ... read more

Biochim Biophys Acta Mol Basis Dis. 2021 Mar 12:166127. doi: 10.1016/j.bbadis.2021.166127. Online ahead of print.ABSTRACTHuntington's disease (HD) is an inherited, progressively debilitating disorder marked by prominent degeneration in striatal and cortical brain regions. HD is caused by (CAG)n repeat expansion in huntingtin (HTT) gene that translates into a mutant form ... read more

Biol Psychiatry. 2021 Mar 12:S0006-3223(21)00043-3. doi: 10.1016/j.biopsych.2020.12.032. Online ahead of print.NO ABSTRACTPMID:33722386 | DOI:10.1016/j.biopsych.2020.12.032 ... read more

Cerebellum. 2021 Mar 15. doi: 10.1007/s12311-021-01256-5. Online ahead of print.ABSTRACTRecent findings suggest a significant effect of the cerebellar circuit deterioration on the clinical manifestation of Huntington's disease, calling for a better understanding of the cerebellar degeneration in this disorder. Recent brain imaging analyses have provided conflicting results regarding the cerebellar ... read more

Arch Clin Neuropsychol. 2021 Mar 16:acab009. doi: 10.1093/arclin/acab009. Online ahead of print.ABSTRACTOBJECTIVE: Huntington's disease (HD) is a genetic neurodegenerative condition that is characterized by cognitive, motor, and psychiatric dysfunction. The purpose of this study was to explore which disease characteristics influence caregiver burden in HD.METHODS: Fifty participants with HD and ... read more

Brain. 2021 Mar 16:awab087. doi: 10.1093/brain/awab087. Online ahead of print.ABSTRACTCorrection of mis-splicing events is a growing therapeutic approach for neurological diseases such as spinal muscular atrophy or neuronal ceroid lipofuscinosis 7, which are caused by splicing-affecting mutations. Non-mutation harboring mis-spliced effector genes are also good candidate therapeutic targets in diseases ... read more

Front Cell Dev Biol. 2021 Feb 25;9:620925. doi: 10.3389/fcell.2021.620925. eCollection 2021.ABSTRACTA regulator of ribosome synthesis 1 (RRS1) was discovered in yeast and is mainly localized in the nucleolus and endoplasmic reticulum. It regulates ribosomal protein, RNA biosynthesis, and protein secretion and is closely involved in cellular senescence, cell cycle regulation, ... read more

Neurosci Bull. 2021 Mar 15. doi: 10.1007/s12264-021-00649-0. Online ahead of print.NO ABSTRACTPMID:33721179 | DOI:10.1007/s12264-021-00649-0 ... read more

Front Neurol. 2021 Feb 25;12:616820. doi: 10.3389/fneur.2021.616820. eCollection 2021.ABSTRACTAnimals acquire motor skills to better survive and adapt to a changing environment. The ability to learn novel motor actions without disturbing learned ones is essential to maintaining a broad motor repertoire. During motor learning, the brain makes a series of adjustments ... read more

Cell Death Dis. 2021 Mar 12;12(3):262. doi: 10.1038/s41419-021-03552-8.ABSTRACTThe striatum is structurally highly diverse, and its organ functionality critically depends on normal embryonic development. Although several studies have been conducted on the gene functional changes that occur during striatal development, a system-wide analysis of the underlying molecular changes is lacking. Here, ... read more

J Cell Sci. 2021 Mar 12:jcs.254201. doi: 10.1242/jcs.254201. Online ahead of print.ABSTRACTThe recognition and disposal of misfolded proteins is essential for the maintenance of cellular homeostasis. Perturbations in the pathways that promote degradation of aberrant proteins contribute to a variety of protein aggregation disorders broadly termed proteinopathies. The p97 AAA-ATPase ... read more

Neurologia. 2021 Mar 9:S0213-4853(21)00034-7. doi: 10.1016/j.nrl.2021.01.016. Online ahead of print.ABSTRACTNeuronal function and differentiation are tightly regulated by both genome and epigenome. Based on the environmental information the epigenetic changes occur. Neurodegeneration is the consequence of dysregulation of both the genome and epigenome. In this study, we saw different types of ... read more

Neurochem Int. 2021 Mar 10;145:105011. doi: 10.1016/j.neuint.2021.105011. Online ahead of print.ABSTRACTDefective proteostasis is associated with the gradual accumulations of misfolded proteins and is a hallmark of many age-associated neurodegenerative diseases. In the aged brain, maintenance of the proteostasis network presents a substantial challenge, and its loss contributes to the onset ... read more

Life Sci. 2021 Mar 9;274:119326. doi: 10.1016/j.lfs.2021.119326. Online ahead of print.ABSTRACTThe blood-brain barrier (BBB) is composed of a layer of endothelial cells that is interspersed with a series of tight junctions and characterized by the absence of fenestrations. The permeability of this barrier is controlled by junctions such as tight ... read more

FASEB J. 2021 Apr;35(4):e21510. doi: 10.1096/fj.202002702R.ABSTRACTNeurological diseases are relatively complex diseases of a large system; however, the detailed mechanism of their pathogenesis has not been completely elucidated, and effective treatment methods are still lacking for some of the diseases. The SUMO (small ubiquitin-like modifier) modification is a dynamic and reversible ... read more

Vitam Horm. 2021;115:265-316. doi: 10.1016/bs.vh.2020.12.012. Epub 2021 Feb 18.ABSTRACTIt is not only important to consider how hormones may change with age, but also how downstream signaling pathways that couple to hormone receptors may change. Among these hormone-coupled signaling pathways are the 3',5'-cyclic guanosine monophosphate (cGMP) and 3',5'-cyclic adenosine monophosphate (cAMP) ... read more

Stem Cells Transl Med. 2021 Mar 12. doi: 10.1002/sctm.20-0431. Online ahead of print.ABSTRACTHuntington's disease (HD) is a fatal autosomal-dominant neurodegenerative disease caused by a trinucleotide CAG repeat expansion of the huntingtin gene (HTT) that affects 1 in every 10 000 individuals in the United States. Our lab developed a novel ... read more

Adv Pharmacol. 2021;90:277-306. doi: 10.1016/bs.apha.2020.10.002. Epub 2020 Nov 24.ABSTRACTNeurodegenerative diseases (NDDs) are in need of new drug discovery approaches. Our previous systematic analyses of Huntington's Disease (HD) literature for protein-protein interactors (PPIs) and modifiers of mutant Huntingtin-driven phenotypes revealed enrichment for PPIs of genes required for homeostatic synaptic plasticity (HSP) ... read more

Neurology. 2021 Mar 10:10.1212/WNL.0000000000011823. doi: 10.1212/WNL.0000000000011823. Online ahead of print.ABSTRACTOBJECTIVE: To investigate the relationships between CAG repeat length in the huntingtin gene and cognitive performance in participants above and below the disease threshold for Huntington's Disease (HD), we performed a cross-sectional analysis of the Enroll-HD database.METHODS: We analyzed data from ... read more

EBioMedicine. 2021 Mar 8;65:103266. doi: 10.1016/j.ebiom.2021.103266. Online ahead of print.ABSTRACTBACKGROUND: Pathological processes in Huntington's disease (HD) begin many years prior to symptom onset. Recently we demonstrated that in a premanifest cohort approximately 24 years from predicted disease onset, despite intact function, there was evidence of subtle neurodegeneration. Here, we use ... read more

Neurodegener Dis Manag. 2021 Apr;11(2):137-142. doi: 10.2217/nmt-2020-0045. Epub 2021 Mar 11.ABSTRACTNeurologic and nonneurologic manifestations have been shown for Huntington disease (HD) as a genetic neurodegenerative disorder. However, cerebral venous thrombosis (CVT), iron-deficiency anemia and neutropenia have not been reported as its presentations to date. We introduce the first case of ... read more