Anti_Human, mab CLN_2 Source Mouse
- Known as:
- Anti_Human, mab CLN_2 Source Mouse
- Catalog number:
- 101-M327
- Product Quantity:
- 100 µg
- Category:
- -
- Supplier:
- Reliatech
- Gene target:
- Anti_Human mab CLN_2 Source Mouse
Related genes to: Anti_Human, mab CLN_2 Source Mouse
- Gene:
- TPP1 NIH gene
- Name:
- tripeptidyl peptidase 1
- Previous symbol:
- CLN2, SCAR7
- Synonyms:
- -
- Chromosome:
- 11p15.4
- Locus Type:
- gene with protein product
- Date approved:
- 1990-01-30
- Date modifiied:
- 2019-04-23
- Gene:
- ZG16B NIH gene
- Name:
- zymogen granule protein 16B
- Previous symbol:
- -
- Synonyms:
- HRPE773, PRO1567, JCLN2
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2009-03-11
- Date modifiied:
- 2015-01-12
Related products to: Anti_Human, mab CLN_2 Source Mouse
Related articles to: Anti_Human, mab CLN_2 Source Mouse
- Hepatocellular carcinoma (HCC) is a prevalent global cancer. Most patients with HCC are diagnosed at an advanced stage. Therefore, new biomarkers and treatments are urgently needed. - Source: PubMed
Publication date: 2026/05/08
Weng YijieChen ChanganCai YueqingGao FeifeiSitu JiahuaWu JiajianZhang GuixiaChen XintianJiang Danxian - Aging is the strongest risk factor for neurodegeneration, yet how the human brain ages remains poorly understood. Loss-of-function (LOF) variants in cause severe juvenile-onset Parkinson's disease, providing a window into the mechanisms that accelerate age-related neurodegeneration. ATP13A2-LOF causes lysosomal polyamine sequestration, but how this promotes pathogenesis remains unclear. We discovered that ATP13A2-LOF depletes cytosolic polyamines in astrocytes, triggering compensatory upregulation of polyamine biosynthesis, which diverts S-adenosyl methionine (SAM) from DNA and histone methylation, leading to increased chromatin accessibility and epigenetic reprogramming of astrocytes into a neuroinflammatory state that releases neurotoxic cytokines that promote dopaminergic neuron death. In ATP13A2 knockout mice and human models, we find that genetic and pharmacological inhibition of SAM utilization in polyamine biosynthesis prevents astrocytic epigenetic reprogramming and promotes dopaminergic neuron survival. These findings reveal a direct link between polyamine metabolism, epigenetic dysfunction, and neurotoxic inflammation, uncovering new therapeutic opportunities in Parkinson's disease. - Source: PubMed
Publication date: 2026/04/06
Coccia ElenaParfitt Gustavo MorroneIjaz SundasSati AishaGesner JuliaArevalo Andrea PerezStrong JenniferBright AnnaSohail SohaMeimoun TheaAhfeldt TimVangheluwe PeterBlanchard Joel - Most genetic studies on Parkinson's disease (PD) have been conducted in populations of European descent. The African population is under-represented in PD genetics research. The aim of this systematic review is to give a comprehensive and up-to-date overview of monogenic PD in Africa. - Source: PubMed
Publication date: 2026/04/09
Banjaw ZelalemAssefa ZerihunBogaert ElkeCrosiers DavidSantens PatrickDermaut Bart - Kufor-Rakeb Syndrome (KRS) is a rare neurodegenerative disease caused by homozygous mutations in the ATP13A2 gene. The ATP13A2 protein, found in lysosomal and late-endosomal membranes, performs cellular functions such as iron-chelating agent transport and intracellular iron homeostasis. Mutations in ATP13A2 can lead to intracellular iron accumulation; however, whether KRS caused by an ATP13A2 mutation falls under Neurodegeneration with Brain Iron Accumulation disorders has long been debated. The most fundamental reason is that magnetic resonance imaging (MRI) cannot identify iron deposits in the basal ganglia in all KRS cases. We hypothesize that analyzing iron deposition at the cellular level could be more sensitive in detecting varying levels of iron accumulation associated with different ATP13A2 mutations, and it may be more useful when conventional MRI fails to detect iron, yields inconclusive results, or cannot be performed. We identified two new ATP13A2 mutations (p.Leu518_Thr519del, and p.Leu939Pro) in this study and comparatively investigated the impacts of three distinct ATP13A2 mutations (p.Pro474fs, p.Leu518_Thr519del, and p.Leu939Pro) using KRS patients' primary fibroblasts and MCF7 cells overexpressing these mutated ATP13A2 proteins to analyze if these different mutations of ATP13A2 can cause differing levels of iron accumulation. Following the detection of iron deposits via Prussian blue staining and inductively coupled plasma mass spectrometry, the cell viability was assessed via MTT assay to ascertain the impact of iron accumulation. Each type of ATP13A2 mutation led to iron accumulation; however, frameshift and deletion mutations resulted in more iron accumulation than the missense mutation. In addition, the transient overexpression of the wild-type ATP13A2 attenuated the cell death caused by iron accumulation. This study demonstrated that different types of ATP13A2 mutations are related to varying levels of iron accumulation and provided an explanation for the inconsistent perspectives on the association of KRS with iron accumulation. - Source: PubMed
Erterek EzgiTemizci BenanTekgül ŞeymaÇakır BilalBaşak A NazlıGültekin MuratYapıcı ZuhalKarabay Arzu - ATP13A2 is a lysosomal P5-ATPase highly expressed in the central nervous system, regulating polyamine, metal cation, and calcium homeostasis. Loss-of-function mutations cause an autosomal recessive juvenile form of Parkinson's disease called Kufor-Rakeb syndrome and other neurodegenerative disorders. Since the first clinical discovery of the Kufor-Rakeb syndrome, numerous ATP13A2-related models have emerged, leading to significant advances in understanding the physiology and pathophysiology of this protein. This review summarizes ATP13A2 structure, function, pathology, and insights gained from cellular and animal models, highlighting their value for elucidating disease mechanisms and therapeutic development across species and experimental systems, relevant to neurodegeneration research broadly. - Source: PubMed
Publication date: 2026/04/04
Balbo BenedettaKinet RémiCiviero LauraDehay Benjamin