Galc antibody Polyclonal Antibodies Primary antibodies
- Known as:
- Galc (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100385
- Product Quantity:
- 5
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- Galc antibody Polyclonal Antibodies Primary antibodies
Related genes to: Galc antibody Polyclonal Antibodies Primary antibodies
- Gene:
- GALC NIH gene
- Name:
- galactosylceramidase
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 14q31.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-06-02
- Date modifiied:
- 2016-10-05
Related products to: Galc antibody Polyclonal Antibodies Primary antibodies
Related articles to: Galc antibody Polyclonal Antibodies Primary antibodies
- Krabbe disease, also known as globoid cell leukodystrophy, is a rare lysosomal disorder affecting the white matter of the central and peripheral nervous systems. It is characterized by neurodegeneration, with infantile-onset Krabbe disease as the most common form, typically diagnosed within the first year of life and associated with high morbidity and mortality. This autosomal recessive disease is caused by mutations in the gene, which encodes the lysosomal enzyme β-galactocerebrosidase (GALC). This study focuses on examining the structural effects of 4 GALC variants (Gly59Arg, Ser68Phe, Thr278Ile, and Ser303Phe) found as mutations in the gene of patients with Krabbe disease. To investigate the effects of these mutations on protein structure, structural models of human GALC were built. These models served as the basis for a series of all-atom molecular dynamics (MD) simulations to analyze the structural stability of the wild type and the mutated enzyme variants. Since GALC is subcellularly localized in the lysosome (pH 4.5 to 5.5), MD simulations were performed with protonation states corresponding to pH 4.5. Differences in protein flexibility and intramolecular interactions between the wild type and the variants were observed. Similarly, we detected the effects of the mutations on the substrate-binding residues and their vicinity, although the mutation sites themselves do not lie within the active site/binding site of the enzyme. Overall, our MD simulations shed light on how these mutations affect the structure of human GALC in the lysosome and offer possible explanations as to why these mutations have an effect on enzyme function. - Source: PubMed
Publication date: 2026/05/20
Ankermann PietJenne Silja ITalarek JannesHeger LukasSocher Eileen - Gene therapy for neurological disorders is a rapidly evolving field with many preclinical studies and some successful clinical trials. Selectivity of cell specific targeting, efficiency and safety of administration route, and vector dosing are some of the most challenging aspects that need to be addressed for a successful treatment approach. In clinical practice, intravenous delivery is the most commonly used route of administration of viral vectors but adverse events led to the development of intrathecal delivery as a safer delivery method. Preclinical studies confirm the efficacy of intrathecally injected viral vectors for targeting both the central and peripheral nervous system at lower doses than those systemically-administered, limiting toxicity. Clinical applications of intrathecal gene therapy confirm efficacy and safety in patients. Further preclinical studies are needed to improve current vector capsid and payload technologies, while insights from ongoing clinical trials help to optimise patient selection and immunosuppressive protocols. - Source: PubMed
Publication date: 2026/05/14
Kagiava AlexiaChen XinFinkel Richard SGray Steven JKleopa Kleopas A - Krabbe disease (KD) is caused by mutation of the galactosylceramidase () gene, leading to deficient sphingolipid metabolism, which is essential for functional myelination. The twitcher () mouse, a KD model with a premature termination codon (PTC) caused by a single-nucleotide G-to-A substitution at the 355th codon of the gene, is a model candidate for treatment with adenine base editors (ABEs). ABEs have emerged exclusively among genome editing systems as viable therapeutic candidates to correct mutant genes. - Source: PubMed
Publication date: 2026/04/23
Nam Bae-GeunSeo Jung HwaHong Sung-AhKim Ju-HeeKang MinjuNotario Geneva RoseHong YoontaikCho SeungheeBae SangsuCho Sung-Rae - Offline reinforcement learning (RL) demonstrated remarkable performance in learning valid policies by benefiting from high-quality offline datasets. However, collecting such a dataset is labor-intensive, especially for humanoid locomotion. For this reason, many data augmentation techniques have been proposed to improve the quality of offline datasets through noise injection or data synthesis. However, existing data augmentation methods are noise-sensitive, resulting in limited capability in complex robotic environments. To address these issues, we propose guided amplified learning with Lipschitz constraint (GALC), a novel trajectory augmentation method that employs the reward-amplification-guided conditional diffusion model for noise-insensitive data augmentation. Specifically, we introduce a local Lipschitz continuity constraint to regulate the reverse denoising process from the offline dataset. Consequently, the exploration of the diffusion model can be restricted within the local continuity region of the original dataset, thereby generating high-reward trajectories. Moreover, the generated trajectories are also enforced to be noise-insensitive to perturbations, thus enjoying robustness. Notably, our proposed method can prevent the generation of unsafe actions that do not align with the environment dynamics. Extensive experiments on sparse reward scenarios and high-dimensional robotic tasks show that our proposed GALC achieves significant improvements in both the augmented trajectories and policy performance. - Source: PubMed
Publication date: 2026/03/12
Lin ZhiliangChen ZhuangzhuangZhu GuanmingChen JiaxianLi Jianqiang - This study aimed to investigate the mechanisms by which Acanthopanax senticosus extract(ASH) exerts effects on α-synuclein(α-syn) overexpressing transgenic mouse model of Parkinson's disease(PD), with a focus on its regulation of brain lipid metabolism. Twenty PD model mice were randomly assigned to a model group or an ASH treatment group(45.5 mg·kg~(-1) by gavage for 4 weeks), and 10 C57BL/6 mice served as a normal control group. Behavioral assessments revealed that, compared with controls, PD model mice showed prolonged pole test time, reduced spontaneous locomotor activity, shorter latency to fall in the rotarod test, and decreased total distance traveled in the open field test. Serum levels of tumor necrosis factor-α(TNF-α), interleukin-6(IL-6), caspase-9 were significantly elevated, B-cell lymphoma-2(Bcl-2), and proliferating cell nuclear antigen(PCNA) expression was reduced, and marked neuronal damage was observed in brain tissue. ASH intervention significantly improved these behavioral and biochemical parameters and attenuated neuronal injury. Untargeted lipidomics analysis revealed significant alterations in sphingomyelin(SM), ceramide(Cer), phosphatidylcholine(PC), and phosphatidylserine(PS) across multiple brain regions(cortex, substantia nigra, cerebellum, and striatum) in PD mice, which were notably restored by ASH treatment. Pathway analysis indicated that these metabolites were predominantly involved in sphingolipid metabolism. Western blot further demonstrated that ASH downregulated the expression of key sphingolipid metabolic enzymes serine palmitoyltransferase long-chain base subunits 1 and 2(SPTLC1 and SPTLC2) and upregulated UDP-glucose ceramide glucosyltransferase(UGCG), β-galactosylceramidase(GALC), and sphingosine kinase 2(SPHK2), thereby suppressing abnormal SM and Cer accumulation in the substantia nigra and elevating PS and PC levels in the striatum. Spearman's correlation analysis supported the modulatory effect of ASH on brain lipid metabolic profiles. In conclusion, ASH improves behavioral deficits, exerts anti-inflammatory effects, and regulates sphingolipid metabolism to correct disordered lipid profiles, thereby providing neuroprotective effects in PD mice. - Source: PubMed
Gao AoXu Xiao-MinLu Ning-XiaYu Dong-HuaWang YuChen Ping-PingLu FangLiu Shu-Min