Last update 01 Nov 2024

ADSS1

Last update 01 Nov 2024

Basic Info

Synonyms

adenylosuccinate synthase 1, Adenylosuccinate synthetase isozyme 1, Adenylosuccinate synthetase-like 1

+ [9]

Introduction

Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.

Drugs associated with ADSS1

Adenylosuccinate Synthase 1(CRD)

Target

ADSS1

Mechanism

ADSS1 stimulants

Active Org.

Cure Rare Disease, Inc.Startup

Originator Org.

Cure Rare Disease, Inc.Startup

Active Indication

Muscular Diseases

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with ADSS1

100 Translational Medicine associated with ADSS1

0 Patents (Medical) associated with ADSS1

Literatures (Medical) associated with ADSS1

31 Dec 2024·Journal of Enzyme Inhibition and Medicinal Chemistry

Vitamin B6 inhibits activity of Helicobacter pylori adenylosuccinate synthetase and growth of reference and clinical, antibiotic-resistant H. pylori strains

Article

Author: Ašler, Ivana Leščić ; Maksymiuk, Weronika ; Wojtyś, Marta Ilona ; Bubić, Ante ; Gościniak, Grażyna ; Narczyk, Marta ; Krzyżek, Paweł ; Jagusztyn-Krynicka, Elżbieta Katarzyna ; Bzowska, Agnieszka

The current therapies against gastric pathogen Helicobacter pylori are ineffective in over 20% of patients. Enzymes belonging to the purine salvage pathway are considered as novel drug targets in this pathogen. Therefore, the main aim of the current study was to determine the antibacterial activity of pyridoxal 5'-phosphate (PLP), an active form of vitamin B6, against reference and clinical strains of H. pylori. Using a broad set of microbiological, physicochemical (UV absorption, LC-MS, X-ray analysis) and in silico experiments, we were able to prove that PLP inhibits adenylosuccinate synthetase (AdSS) from H. pylori by the competition with GTP (IC₅₀^eq ∼30 nM). This behaviour was attributed to formation of a Schiff base with a lysine residue (a covalent bond with Lys322 in the GTP binding site of AdSS) and was potentiated by the presence of vitamin C. This antibacterial activity of PLP gives hope for its future use against H. pylori.

01 Feb 2024·Neurology Genetics

Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant

Article

Author: Töpf, Ana ; Baskar, Dipti ; Nandeesh, Bevinahalli N ; Nashi, Saraswati ; Menon, Deepak ; Lochmüller, Hanns ; Nalini, Atchayaram ; Srivastava, Kosha ; Sanka, Sai Bhargava ; Vengalil, Seena ; Polavarapu, Kiran ; Preethish-Kumar, Veeramani ; Thomas, Aneesha ; Arunachal, Gautham

Background and ObjectivesDistal myopathies are a heterogeneous group of primary muscle disorders with recessive or dominant inheritance. ADSSL1 is a muscle-specific adenylosuccinate synthase isoform involved in adenine nucleotide synthesis. Recessive pathogenic variants in the ADSSL1 gene located in chromosome 14q32.33 cause a distal myopathy phenotype. In this study, we present the clinical and genetic attributes of 6 Indian patients with this myopathy.MethodsThis was a retrospective study describing on Indian patients with genetically confirmed ADSSL1 myopathy. Details were obtained from the medical records.ResultsAll patients presented in their first or early second decade. All had onset in the first decade with a mean age at presentation being 17.7 ± 8.4 years (range: 3-27 years) and M:F ratio being 1:2. The mean disease duration was 9.3 ± 5.2 years ranging from 2 to 15 years. All patients were ambulant with wheelchair bound state in 1 patient due to respiratory involvement. The median serum creatine kinase (CK) level was 185.5 IU/L (range: 123-1564 IU/L). In addition to salient features of ptosis, cardiac involvement, bulbar weakness, and proximo-distal limb weakness with fatigue, there were significant seasonal fluctuations and decremental response to repetitive nerve stimulation, which have not been previously reported. Muscle histopathology was heterogenous with the presence of rimmed vacuoles, nemaline rods, intracellular lipid droplets along with chronic myopathic changes. Subtle response to pyridostigmine treatment was reported. While 5 of 6 patients had homozygous c.781G>A (p.Asp261Asn) variation, 1 had homozygous c.794G>A (p.Gly265Glu) in ADSSL1 gene.DiscussionThis study expands the phenotypic spectrum and variability of ADSSL1 myopathy with unusual manifestations in this rare disorder. Because the variant c.781G>A (p.Asp261Asn) is the most common mutation among Indian patients similar to other Asian cohorts, this finding could be useful for genetic screening of suspected patients.

01 Jan 2024·Journal of Cancer

A new clinical prognosis model for breast cancer with ADSS as the hub gene

Article

Author: Chen, Yixuan ; Huang, Hai ; Cai, Yuzhe ; Xu, Fei ; Li, Ting ; Huang, Chengyu ; Li, Jinghua ; Zeng, Suna ; Zhao, Tongling ; Peng, Zha ; Li, Xiaoying ; Mo, Steven ; Zhang, Zhi

Background: Breast cancer (BRCA) is the most common malignant tumor and the leading cause of cancer death worldwide. Adenylosuccinate synthetase (ADSS) is highly expressed in BRCA and its subtypes malignant tumors and is associated with poor prognosis. Methods: By applying ROC curve, survival analysis, WGCNA, enrichment analysis, Cox regression model and other methods, this study explores the role of ADSS in BRCA and constructs a scoring model. Results: In this study, the ADSS demonstrated good diagnostic efficacy and high expression in breast cancer tissues. Further exploration of the role of ADSS in BRCA revealed that its significantly related coexpressed genes are clearly involved in biological functions and signaling pathways associated with cell proliferation and differentiation. Additionally, the ADSS-related scoring model showed a significant prognostic impact on clinical characteristics, such as metastasis to lymph nodes, and it was discovered that the ADSS score and related scoring genes may affect the immune microenvironment of BRCA patients, potentially participating in the occurrence of this disease. Conclusion: In summary, our gene expression analysis of ADSS in BRCA generated a clinical scoring model based on the ADSS that may be used to assess prognostic risk and provide potential clinical applications and rational therapeutic targets.

Analysis

Perform a panoramic analysis of this field.

view full example data

Chat with Hiro

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

ADSS1

Basic Info

Related

Analysis