Ask about this productRelated genes to: Pf HRP2 antibody
- Gene:
- HDGFL2 NIH gene
- Name:
- HDGF like 2
- Previous symbol:
- -
- Synonyms:
- HRP2, Hdgfrp2
- Chromosome:
- 19p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2017-04-21
- Date modifiied:
- 2017-04-21
Related products to: Pf HRP2 antibody
Related articles to: Pf HRP2 antibody
- TDP-43 pathology is a defining feature of several neurodegenerative diseases, but its prevalence and regional distribution in ageing and disease are not well characterised. We investigated the burden of brain TDP-43 pathology across ageing, Alzheimer's disease (AD), and amyotrophic lateral sclerosis (ALS), and examined ferritin as a region-specific correlate of TDP-43 pathology. - Source: PubMed
Publication date: 2025/10/03
Waldron Fergal MSpence HollyTaso Orjona StellaRead Fiona LSinha Irika RIrwin Katherine EWong Philip CLing Jonathan PGregory Jenna M - Aggregation and nuclear depletion of the RNA binding protein TDP-43 are the crucial pathological features of amyotrophic lateral sclerosis (ALS) and inclusion body myositis (IBM), two degenerative diseases of the CNS and muscle. The loss of TDP-43 nuclear function results in the aberrant inclusion of cryptic exons in mRNA transcripts, leading to the expression of proteins. Clonally expanded and highly differentiated CD8 T cells have been observed in individuals with TDP-43 proteinopathies and therapeutics modulating the T cell response have recently been found to extend survival. However, the target antigens mediating T cell activation have remained elusive. Here, we investigate whether the proteins induced by aberrant cryptic splicing due to TDP-43 nuclear loss can act as neo-antigens. We detect the HDGFL2 cryptic peptide and multiple other TDP-43 cryptic exons in IBM skeletal muscle, where their presence correlates with enrichment of T cells and class I antigen presentation pathways. Furthermore, we identify epitopes deriving from HDGFL2 and IGLON5 cryptic peptides which are recognized by clonally expanded and functionally differentiated populations of CD8 T cells in ALS and IBM Patients. Finally, we demonstrate that T cells engineered to express the identified TCRs can bind and activate in response to the cryptic peptide derived epitopes (cryptic epitopes) and are able to kill TDP-43 deficient astrocytes. This work identifies for the first time specific T cell antigens in ALS and IBM, directly linking adaptive immune response to TDP-43 pathology. - Source: PubMed
Publication date: 2025/07/14
Chizari ShahabZanovello MatteoKong StevenSaigal VidurBrown Anna-LeighTurchetti ValentinaZampedri LucaSkorupinska IwonaMinicuci Giacomo MariaParon FrancescaTonin PaolaMarchetto GiuliaLi ZiyiColón-Mercado Jennifer MDattilo DarioBarattucci SimoneGatt ArianaQi AndyHanna MichaelWard MichaelPetrucelli LeonardRomano MaurizioVattemi GaetanoBuratti EmanueleMalapsina AndreaMerve AshirwadMachado Pedro MSoraru GianniFratta PietroJiang Ning - Acute myeloid leukemia (AML) is an aggressive blood cancer characterized by poor survival outcomes. Further, due to the extreme molecular heterogeneity of the disease, drug treatment response varies from patient to patient. The variability of drug response can cause unnecessary treatment in more than half of the patients with no or partial therapy responses leading to severe side effects, monetary as well as time loss. Understanding the genetic risk factors underlying the drug response in AML can help with improved prediction of treatment responses and identification of biomarkers in addition to mechanistic insights to monitor treatment response. Here, we report the results of the first Exome-Wide Association Study (EWAS) of ex-vivo drug response performed to date with 175 AML cases and 47 drugs. We used information from 55,423 germline exonic SNPs to perform the analysis. We identified exome-wide significant (p < 9.02 × 10) associations for rs113985677 in CCIN with tamoxifen response, rs115400838 in TRMT5 with idelalisib response, rs11878277 in HDGFL2 with entinostat, and rs2229092 in LTA associated with vorinostat response. Further, using multivariate genome-wide association analysis, we identified the association of rs11556165 in ATRAID, and rs11236938 in TSKU with the combined response of all 47 drugs and 29 nonchemotherapy drugs at the genome-wide significance level (p < 5 × 10). Additionally, a significant association of rs35704242 in NIBAN1 was associated with the combined response for nonchemotherapy medicines (p = 2.51 × 10), and BI.2536, gefitinib, and belinostat were identified as the central traits. Our study represents the first EWAS to date on ex-vivo drug response in AML and reports 7 new associated loci that help to understand the anticancer drug response in AML patients. - Source: PubMed
Publication date: 2025/04/04
Giri Anil KLin JakeKyriakidis KonstantinosTripathi GarimaAlmusa Henrikki - Perry syndrome (PS) is a rare and fatal hereditary autosomal dominant neurodegenerative disorder caused by mutations in dynactin (DCTN1). PS brains accumulate inclusions positive for ubiquitin, transactive-response DNA-binding protein of 43 kDa (TDP-43), and to a lesser extent dynactin. - Source: PubMed
Publication date: 2025/01/09
Pickles Sarah RGonzalez Bejarano JesusNarayan AnandDaughrity LillianMaroto Cidfuentes CandelaReeves Madison MYue MeiCastellanos Otero PaulaEstades Ayuso VirginiaDunmore JudySong YupingTong JimeiDeTure MichaelRawlinson BaileyCastanedes-Casey MonicaDulski JaroslawCerquera-Cleves CatalinaZhang YongjieJosephs Keith ADickson Dennis WPetrucelli LeonardWszolek Zbigniew KPrudencio Mercedes - Inclusion body myositis (IBM) is an idiopathic inflammatory myopathy with muscle pathology characterized by endomysial inflammation, rimmed vacuoles, and cytoplasmic mislocalization of transactive response DNA-binding protein 43 (TDP-43). We aimed to determine whether loss of TDP-43 splicing repression led to the production of "cryptic peptides" that could be detected in muscle biopsies as a useful biomarker for IBM. - Source: PubMed
Publication date: 2025/01/06
Ikenaga ChisekoWilson Andrew BIrwin Katherine EPeethambaran Mallika AswathyKilgore CollinSinha Irika RMichelle Elizabeth HLing Jonathan PWong Philip CLloyd Thomas E