• GRN -related frontotemporal lobar degeneration results from mutations (pathogenic variants) in the GRN gene. (medlineplus.gov)
  • Most mutations in the GRN gene prevent any progranulin from being produced from one copy of the gene in each cell. (medlineplus.gov)
  • Researchers are working to determine how mutations in the GRN gene, and the resulting loss of progranulin, are related to a buildup of TDP-43 in the brain. (medlineplus.gov)
  • Yamanaka and his colleagues isolated the human TDP-43 gene and used genetic engineering to introduce seven different mutations that have previously been identified in patients with inherited ALS. (medicalxpress.com)
  • The results showed that patients carrying TDP-43 mutations with a longer half-life developed the disease at an earlier age. (medicalxpress.com)
  • Map of the effect of mutations on toxicity of the TDP-43 Prion-like Domain. (ibecbarcelona.eu)
  • The researchers used stem cells from patients to create motor neurones with ALS-causing mutations in the TARDBP and VCP genes. (technologynetworks.com)
  • ‍ Numerous pre-clinical studies in the lab and in animal models showed that both TDP-43 mutations and TDP-43 overexpression are associated with ALS. (synapticure.com)
  • Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. (ibecbarcelona.eu)
  • Abstract Lafora disease is a fatal neurodegenerative childhood dementia caused by loss-of-function mutations in either the laforin or malin gene. (ibecbarcelona.eu)
  • These important questions got a new boost by the discovery of mutations in genes encoding Golgi-related proteins as direct causes of neurodegeneration. (frontiersin.org)
  • Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)
  • Overlap exists with Congenital Muscular Dystrophy (CMD) as several gene mutations can cause both a LGMD and CMD phenotype. (medscape.com)
  • These diseases are discussed here in part because mutations in 2 genes can present with either an LGMD or a myofibrillar myopathy phenotype. (medscape.com)
  • Speech and language markers of neurodegeneration: a call for global equity. (medscape.com)
  • Surprisingly, poly-GP levels are similar in presymptomatic and symptomatic C9orf72 carriers, indicating that DPR proteins play an early role in pathogenesis and may trigger TDP-43 pathology and neurodegeneration in a cascade-like mechanism. (nomisfoundation.ch)
  • Azpurua J, El-Karim EG, Tranquille M, Dubnau J. A behavioral screen for mediators of age-dependent TDP-43 neurodegeneration identifies SF2/SRSF1 among a group of potent suppressors in both neurons and glia . (stonybrookmedicine.edu)
  • This gene provides instructions for making a protein called progranulin. (medlineplus.gov)
  • However, studies have shown that the disorder is characterized by the buildup of a protein called TAR DNA-binding protein 43 (TDP-43) in certain brain cells. (medlineplus.gov)
  • Up to now research on frontotemporal dementia has been focusing on two forms: the first involving a protein called Tau that accumulates in patients' brains, while the second form causes accumulation of a protein called TDP-43. (kbs-frb.be)
  • In both, AD and FTLD, abnormal protein called TDP-43 is present. (dementia.org.au)
  • In virtually all persons with amyotrophic lateral sclerosis (ALS) and in up to half of all cases of Alzheimer's disease (AD) and frontotemporal dementia, a protein called TDP-43 is lost from its normal location in the nucleus of the cell. (news-medical.net)
  • Until now, scientists were aware that a few proteins, especially a protein called TDP-43, were found in unexpected locations in ALS nerve cells. (technologynetworks.com)
  • Emanuele - I'm working on a protein called TDP-43, and that is the main protein that is aggregating in neurons of patients affected by ALS. (thenakedscientists.com)
  • A ubiquitous protein called sigma 1 receptor, which is known to protect cells from stress, appears key to the function and survival of the neurons most impacted by glaucoma, scientists report. (azolifesciences.com)
  • While the connection to Alzheimer's is not yet understood, scientists speculate that TDP-43 may be a secondary pathology or a marker of Alzheimer's disease. (neurodegenerationresearch.eu)
  • In 2008, researchers concluded that TDP-43 disruption plays a role in the pathology of people with both familial and sporadic forms of ALS. (synapticure.com)
  • Because TDP-43 pathology occurs in nearly all types of ALS, it has become an important therapeutic target in the drug development pipeline . (synapticure.com)
  • AD patients with TDP-43 pathology have increased severity of cognitive impairment compared to those without TDP-43 pathology. (biomedcentral.com)
  • Furthermore, the most common genetic risk factor for AD, apolipoprotein E4 ( APOE4 ), is associated with increased frequency of TDP-43 pathology. (biomedcentral.com)
  • These findings provide strong evidence that TDP-43 pathology is an integral part of multiple neurodegenerative conditions, including AD. (biomedcentral.com)
  • We emphasize the need for studies on the mechanisms that lead to TDP-43 pathology, especially in the setting of age-related disorders such as AD. (biomedcentral.com)
  • The features of GRN -related frontotemporal lobar degeneration result from the gradual loss of neurons in regions near the front of the brain called the frontal and temporal lobes . (medlineplus.gov)
  • People with a mutation in one copy of the GRN gene in each cell (heterozygotes) have some functional progranulin protein and develop GRN -related frontotemporal lobar degeneration. (medlineplus.gov)
  • In a new study published in The Journal of Biological Chemistry , researchers report advances in the understanding of how the protein TDP-43 causes damaging plaques to build up in neurodegenerative illnesses like amyotrophic lateral sclerosis (ALS) and a form of dementia called frontotemporal lobar degeneration. (neurodegenerationresearch.eu)
  • Cytoplasmic inclusion bodies containing phosphorylated and truncated forms of TDP-43 are hallmarks of amyotrophic lateral sclerosis (ALS) and a subset of frontotemporal lobar degeneration (FTLD). (biomedcentral.com)
  • They then introduced the mutated genes into neurons growing in culture dishes in order to induce the cells to synthesize the mutated proteins. (medicalxpress.com)
  • Misfolded proteins are normally recognized and targeted for destruction by a cell structure called the proteasome before they can cause cellular damage . (medicalxpress.com)
  • Accelerated disease onset with stabilized familial Amyotrophic Lateral Sclerosis (ALS)-linked mutant TDP-43 proteins. (medicalxpress.com)
  • CUL2 was known to break down other proteins, but again, our study reports for the first time that it's also involved in the breakdown of TDP-43,' says Uchida. (technologynetworks.com)
  • The RNA sequence of the vaccine as well as the spike protein target interaction were analyzed for the potential to convert intracellular RNA binding proteins TAR DNA binding protein (TDP-43) and Fused in Sarcoma (FUS) into their pathologic prion conformations. (shtfplan.com)
  • The process of making proteins from genes is similar to that of a factory, where employees must follow a set of instructions that are both effective and precise. (azolifesciences.com)
  • In an organ called the thymus, they learn to distinguish between proteins that are helpful and those that are harmful. (azolifesciences.com)
  • Figure 1: TDP-43 (red) in motor neurons in a patient with ALS (right) compared with a normal motor neuron cell (left). (medicalxpress.com)
  • The MND Association's program will address a fundamental question of whether the support cells from healthy or TDP-43 mutant gene carrying patients are injurious or protective to motor neurons. (sinostemcells.com)
  • In addition, experiments growing motor neurons and support cells from different donors in the same dish (a process called 'co-culture') will address whether this disease spread seen in the human condition can be reproduced in the laboratory. (sinostemcells.com)
  • Approximately 97% of people with ALS have TDP-43 aggregates in their motor neurons, the nerve cells that control voluntary movement and are progressively damaged in ALS. (synapticure.com)
  • The connection between ALS and FTD has been further confirmed at the molecular level by the identification of TDP-43 as the major component of ubiquitin-positive inclusions in both ALS and the most common pathological form of FTD 7 , 8 . (nature.com)
  • Additionally, TDP-43 inclusions have been found in up to 57% of Alzheimer's disease (AD) cases, most often in a limbic distribution, with or without hippocampal sclerosis. (biomedcentral.com)
  • Other related disorders include corticobasal syndrome and FTD with amyotrophic lateral sclerosis (ALS), FTD-ALS, also called FTD-MND. (wikipedia.org)
  • Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) share overlapping genetic causes and disease symptoms, and are linked neuropathologically by the RNA binding protein TDP-43 (TAR DNA binding protein-43 kDa). (nature.com)
  • In the adult motor neuron disease amyotrophic lateral sclerosis (ALS), for example, such aggregations are formed by misfolding of the TDP-43 protein (Fig. 1). (medicalxpress.com)
  • AL001 is also currently in a Phase 2 study in symptomatic FTD patients with a mutation in the C9orf72 gene and is planned to enter Phase 2 development for amyotrophic lateral sclerosis (ALS) in the second half of 2021. (alector.com)
  • Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia. (azolifesciences.com)
  • In addition to ALS, TDP-43 is found in cases of frontotemporal dementia, a type of dementia that is distinct from Alzheimer's disease. (neurodegenerationresearch.eu)
  • TDP-43 is also tied to other neurodegenerative disorders and was recently shown to be present in many Alzheimer's disease patients as well. (neurodegenerationresearch.eu)
  • The paper goes on to state that "The folding of TDP-43 and FUS into their pathologic prion confirmations is known to cause ALS, front temporal lobar degeneration, Alzheimer's disease, and other neurological degenerative diseases. (shtfplan.com)
  • The gene thought to be most strongly associated with Alzheimer's disease is the apolipoprotein E4 (APoE4) gene. (bodychargenutrition.com)
  • It can be unsettling to hear that having a certain gene may predispose you to a disease like Alzheimer's, but keep in mind it's estimated that genetics account for less than 5 percent of Alzheimer's cases. (bodychargenutrition.com)
  • In short, yes, there are certain genes that may be linked to Alzheimer's risk, some of which are likely yet to be discovered. (bodychargenutrition.com)
  • For instance, research presented at the 2014 Alzheimer's Association International Conference (AAIC) revealed Alzheimer's patients with TDP-43, an infectious protein, were 10 times more likely to have been cognitively impaired at death than those without. (bodychargenutrition.com)
  • As part of their work, a key enzyme in Alzheimer's disease, the so-called gamma secretase, was molecularly defined for the first time. (nomisfoundation.ch)
  • This includes increased expression of genes involved in nerve function, neuroprotection and autophagy, a process that prevents the accumulation of damaged cellular components and protein aggregates, which are characteristic of neurodegenerative diseases such as Alzheimer's disease in humans. (drugdiscoverynews.com)
  • Here we have employed a primary rodent neuronal culture model to study the cellular effects of TDP-43 dysfunction in hippocampal and cortical neurons. (nature.com)
  • The researchers aimed to learn more about how TDP-43 works within cells and is regulated. (neurodegenerationresearch.eu)
  • The researchers used this procedure to see if phosphorylation was involved with TDP-43's actions, and found that the kinase MEK phosphorylates at two residues. (neurodegenerationresearch.eu)
  • Next, the researchers wanted to know if phosphorylation was affecting protein functions, and they found that it regulates the ability to control processing, causing TDP-43 to go to an area where it wasn't previously. (neurodegenerationresearch.eu)
  • Indeed, demonstrating the importance of this science, in September, top ALS researchers from around the world are meeting for the First Annual Bi-ennial Conference on TDP-43 Function and Dysfunction in Disease . (synapticure.com)
  • Researchers believe that dementia may have a strong genetic link but that, with the exception of rare dementias caused by gene mutation, environment and lifestyle also play an important role. (everydayhealth.com)
  • To investigate this, the researchers sifted through gene-expression data from postmortem human brain samples and found 1.33-fold less TAK1 mRNA in people older than 60 than in people younger than 40. (alzforum.org)
  • It regulates many genes and controls the processing of messenger RNA. (neurodegenerationresearch.eu)
  • TDP-43 regulates RNA metabolism, trafficking, and localization of thousands of target genes. (nature.com)
  • The non-specific lethal complex regulates genes and pathways genetically linked to Parkinson's disease. (medscape.com)
  • However, the cellular and molecular mechanisms by which dysfunction of TDP-43 contributes to disease pathogenesis and progression remain unclear. (nature.com)
  • In some cases, TDP-43 deposits are also found in neurons with neurofibrillary tangles. (biomedcentral.com)
  • Additionally, the team found that when VHL becomes overly abundant, VHL/TDP-43 complex accumulates in the cytoplasm, forming a protein cluster thought to be detrimental to the functioning of oligodendrocytes. (technologynetworks.com)
  • Additionally, some of the same genes identified to cause familial ALS have been found in patients with sporadic ALS. (mda.org)
  • Additionally, nearly 50% of people with frontotemporal dementia (FTD) also have TDP-43 aggregation. (synapticure.com)
  • Additionally, the analysis revealed that the e3 variant of the ApoE gene was also associated with a low memory score, when found in conjunction with the TOMM40 gene. (bodychargenutrition.com)
  • She achieved this by discovering the most important disease genes and the molecular pathways leading to frontotemporal dementia. (kbs-frb.be)
  • Thus, this model system will be useful in identifying pathways downstream of TDP-43 that mediate dendritic arborization, which may provide potential new avenues for therapeutic intervention in ALS/FTD. (nature.com)
  • A number of genes associated with ALS have been identified or at least mapped to a specific region of a chromosome. (mda.org)
  • TDP-43 is a 43 kDa heterogeneous nuclear ribonuclear protein (hnRNP) composed of 414 amino acids and is encoded by the TARDBP gene located on chromosome 1 (1p36.22) [ 14 ]. (biomedcentral.com)
  • 3R" and "4R" tau refer to the products of the alternative splicing of the MAPT gene (chromosome 17), which generates tau species with either three or four conserved ~32 amino acid repeats in the microtubule binding domain. (medscape.com)
  • The TDP-43 protein forms clumps (aggregates) that may interfere with cell functions and ultimately lead to cell death. (medlineplus.gov)
  • They also found that stabilized TDP-43 protein loses the ability to control its own mRNA transcripts, thereby further accelerating its accumulation. (medicalxpress.com)
  • Recent studies have implied that the misfolding and accumulation of the protein TDP-43 in oligodendrocytes was likely linked to the development of ALS, as with other neurological diseases like Alpha-synuclein in Parkinson's. (technologynetworks.com)
  • The scientific journal Microbiology and Infectious Diseases has recently made the claim that the mRNA Pfizer Covid vaccine (experimental gene therapy jab) may contain prions that cause deadly neurodegenerative disease, sometimes called "Creutzfeldt-Jakob" or "Mad Cow" disease. (shtfplan.com)
  • New research by Koji Yamanaka and colleagues from the Laboratory for Motor Neuron Disease at the RIKEN Brain Science Institute has now revealed that increased stability of mutant TDP-43 is associated with earlier onset of ALS. (medicalxpress.com)
  • This increased stability also made the mutant TDP-43 molecules more toxic to the cells. (medicalxpress.com)
  • Therefore, efficient DNA repair mechanisms are crucial for the proper functioning of genes and the maintenance of healthy cells. (dementia.org.au)
  • The cell culture experiments provide a new model that can be used to control the stability of TDP-43, and which could provide further insights into the importance of protein stability for the mechanisms of disease development and progression. (medicalxpress.com)
  • Tdp-43 pathological cor- relation to suggest that all coi study and pack- aging. (higienistasvitis.com)
  • In this review, we focus on TDP-43 in aging and AD from clinical, pathological, and basic research perspectives. (biomedcentral.com)
  • Transactive response DNA binding protein of 43 kDa (TDP-43) is an intranuclear protein encoded by the TARDBP gene that is involved in RNA splicing, trafficking, stabilization, and thus, the regulation of gene expression. (biomedcentral.com)
  • Enrollment is currently underway for a pivotal Phase 3 trial for AL001 in people at risk for or with frontotemporal dementia due to a progranulin gene mutation (FTD-GRN). (alector.com)
  • Uchida's team found that the von Hippel Lindau (VHL) protein-associated with a gene most notable for cancer suppression-strongly binds to malformed versions of TDP-43 in oligodendrocytes. (technologynetworks.com)
  • In this project I investigate how abnormal TDP-43 damages DNA in dementia to be able to repair this mechanism and therefore treat dementia. (dementia.org.au)
  • Once the abnormal gene products are better understood, specific medical treatments may emerge. (medscape.com)
  • [6] [13] About half of these genetic cases are due to disease-causing variants in one of four specific genes . (wikipedia.org)
  • In the August 23 Cell, scientists led by Junying Yuan of Harvard Medical School propose that when a genetic mutation hobbles an RIPK1 inhibitor called TBK1, and age quells another dubbed TAK1, ALS/FTD ensues. (alzforum.org)
  • Gene silencing therapies are used to interfere with, or "silence", the expression of genes that are associated with disorders. (azolifesciences.com)
  • It has been estimated that about 42% of the human disease genes have an orthologue in the genome of C. elegans including those genes associated with Alzheimer disease, Parkinson's disease, muscular dystrophy, and many others disorders. (phylumtech.com)
  • Frontotemporal disorders, commonly called frontotemporal dementia, develop when the frontal (front) and temporal (side) lobes of the brain atrophy. (everydayhealth.com)
  • The mutation responsible for the inherited form of ALS is known to originate in the gene encoding the TDP-43 protein, but the relationship between the biochemical properties of TDP-43 and the progression of ALS has been unclear. (medicalxpress.com)
  • They innovated and developed the recently approved ASO, Tofersen, targeting the SOD1 mutation, as well as the drug called Spinraza for children with Spinal Muscular Atrophy. (synapticure.com)
  • TDP-43 appears to be a very fragile protein, and becomes fragmented in the cytoplasm. (technologynetworks.com)
  • Given that DNA is damaged in dementia and TDP-43 does not work properly, defective DNA repair may be a potential cause of the disease. (dementia.org.au)
  • Despite the numerous, well-described functions and interactions of TDP-43, it is not well understood exactly which TDP-43-dependent cellular processes become defective in ALS/FTD and contribute to disease etiology. (nature.com)
  • The principal aim of the Association's -800,000 three-year program is to develop and characterize human brain cells, derived from the skin cells of MND patients with the hereditary TDP-43 form of the disease and also from 'control' donors who do not have MND and carry the normal TDP-43 gene. (sinostemcells.com)
  • This discovery has been described as 'a seismic shift' in understanding the disease, as it points to TDP-43 playing a pivotal role in many forms of MND. (sinostemcells.com)
  • Stage 3: Examine how genes are switched on and off within the cells, in an attempt to identify 'gene expression signatures' associated with motor neuron disease. (sinostemcells.com)
  • As a monogenic disorder, Lafora disease is a good candidate for gene therapy-based approaches. (ibecbarcelona.eu)
  • Here we evaluated the effect of restoring malin in a malin-deficient mouse model of Lafora disease as a proof of concept for gene replacement therapy. (ibecbarcelona.eu)
  • Neurodegenerative models usually involve the transgenic expression of human disease genes. (phylumtech.com)
  • In this context, it was not clear whether the restoration of a normal copy of the defective gene (either laforin or malin) would prove effective. (ibecbarcelona.eu)
  • Although aberrant dendritic morphology has been reported in non-TDP-43 mouse models of ALS and in human ALS patients, this phenotype is largely unexplored with regards to TDP-43. (nature.com)
  • ALSpire is a dose-escalating study investigating BIIB-105's safety and tolerability in about 108 ALS patients with or without polyQ repeats in the ATXN2 gene. (synapticure.com)
  • His team found that in 97% of ALS cases, TDP-43 wasn't doing its job . (upworthy.com)
  • One of the first family-linked genes discovered was a gene called SOD1 that is found in about 30% of familial cases. (upworthy.com)
  • They found that the mutated versions of TDP-43 were far more stable than the normal form, with half-lives up to four times that of the normal protein. (medicalxpress.com)
  • Yamanaka's group found that stabilized TDP-43 protein molecules inhibit proteasome activity, thus adding to the growing body of evidence that this clearing mechanism fails in neurodegenerative diseases . (medicalxpress.com)
  • The TDP-43 gene appears to be a direct cause of MND in around 1% of cases but the protein that the gene produces is found in up to 90% of MND cases. (sinostemcells.com)
  • Sure enough, they found that the mice were born healthy if one or both copies of the RIPK1 gene were replaced by a kinase-dead version. (alzforum.org)
  • And now that they know this, they've been able to begin work on new therapies to do TDP-43's job for it. (upworthy.com)
  • Perhaps the rulers will pass this off as yet another "mild" side effect of these gene therapies. (shtfplan.com)
  • While TDP-43 may play a large part in the disease's progression, it's not the whole picture. (upworthy.com)
  • When you look at ALS from a genetics perspective, about 10% of the cases are called 'familial', [that is], lots of people in the family have ALS and it seems to be passed down. (upworthy.com)
  • TDP-43 is an important protein tied to cell survival, metabolism and function that has been conserved by evolution in animals from flies to humans. (neurodegenerationresearch.eu)
  • Without TDP-43, scientists see animals develop locomotive defects and shortened lifespans. (neurodegenerationresearch.eu)
  • And scientists know that in ALS and frontotemporal dementia, the aggregating protein is TDP-43. (neurodegenerationresearch.eu)
  • According to a study released by Cell Press on May 16th, 2022, in the journal Cell Reports Methods, scientists have created a CRISPR-Cas9 technique to facilitate gene editing in cockroaches. (azolifesciences.com)
  • Continuing Bodnar's research over more than 10 years now, GMGI scientists investigated age-related patterns of gene expression-the extent to which various genes are turned on and off-in tissues of the red sea urchin. (drugdiscoverynews.com)
  • The TDP-43 protein has also been implicated in other conditions - in particular some forms of dementia - so it may prove to play a contributory role in a wider number of neurodegenerative diseases. (sinostemcells.com)
  • The results indicate that the vaccine RNA has specific sequences that may induce TDP-43 and FUS to fold into their pathologic prion confirmations. (shtfplan.com)
  • Post-transcriptional regulation of human genes by TE-derived sequences has been observed in specific contexts, but has yet to be systematically and comprehensively investigated. (biomedcentral.com)
  • The genes are essential for function of the whole organism, but they are damaged everyday due to normal cellular processes and exposition to toxic agents. (dementia.org.au)
  • Future functional studies will determine if the observed changes in gene expression act to preserve tissue function and mitigate aging in these long-lived animals. (drugdiscoverynews.com)
  • Many of the genes analyzed in this study are conserved in both humans and sea urchins," said Bodnar, who is GMGI's Donald G. Comb Science Director. (drugdiscoverynews.com)
  • The results revealed a unique pattern of gene expression in nerve tissue that is distinctly different to that seen in the aging nervous system of humans. (drugdiscoverynews.com)
  • The genomic role of TEs has followed an interesting arc - they were initially described as controlling elements in maize, due to the impact of insertions on local gene expression [ 6 ]. (biomedcentral.com)
  • Urgently wanted: markers of TDP-43 and tau pathophysiology. (alzforum.org)
  • The other 90% of ALS appears to occur completely by unfortunate chance and we call that 'sporadic. (upworthy.com)
  • TDP-43 is an indispensable protein that needs to accumulate in order for vital cell processes to occur. (neurodegenerationresearch.eu)
  • For those individuals for whom ALS runs in the family, that seems to be linked to a gene called SOD1, and not TDP-43. (upworthy.com)
  • The most common cause is expansion of a (GGGGCC)n repeat in the first intron of the gene C9orf72. (nomisfoundation.ch)
  • Ling's research focuses on TDP-43, a protein in cells that's he's been able to link to ALS. (upworthy.com)
  • and other vital support cells called astrocytes. (sinostemcells.com)
  • One of the main factors triggering the onset of ALS is the malfunctioning of nerve support cells called oligodendrocytes. (technologynetworks.com)
  • T and B lymphocytes, which are part of a group of immune cells commonly called white blood cells, work together to eliminate foreign invaders in the body such as viruses. (azolifesciences.com)
  • VHL forms a complex with cullin 2 (CUL2), a protein that rescues the cell in hypoxic conditions, then facilitating the breakdown of malformed TDP-43 even under normal conditions. (technologynetworks.com)
  • For terminology, we call these nonsense pages 'cryptic exons. (upworthy.com)
  • TDP-43 is a highly conserved, ubiquitously expressed, multifunctional nucleic acid-binding protein composed of two RNA recognition motifs (RRM), nuclear localization (NLS) and export signals (NES), and a carboxy-terminal glycine rich region. (nature.com)
  • Why, then, do TBK1-heterozygous mice develop normally, while people with a mutated copy of the gene develop ALS/FTD? (alzforum.org)
  • We show that manipulation of TDP-43 expression levels causes significant defects in dendritic branching and outgrowth, without an immediate effect on cell viability. (nature.com)