Citrullinemia Type 1: Behavioral Improvement with Late Liver Transplantation

Janwadkar, Aashika; Shirole, Nikhil U.; Nagral, Aabha; Bakshi, Rochana; Vasanth, Suresh; Bagde, Abhijit; Yewale, Vijay; Mirza, Darius F.

doi:10.1007/s12098-019-02905-8

Cited by 5 publications

(3 citation statements)

References 7 publications

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“…Citrullinemia type 1 models CTLN1 is an autosomal recessive urea cycle disorder caused by mutations in the ASS1 gene, resulting in a deficiency of argininosuccinate synthetase (ASS), characterized by hyperammonemia leading to neurological damage [86]. In the treatment of CTLN1, besides conventional therapeutic approaches, organoid technology has also been employed to simulate liver disease progression, drug screening, and personalized therapy.…”

Section: Monogenic Liver Disease Modelsmentioning

confidence: 99%

Research progress and application of liver organoids for disease modeling and regenerative therapy

Hu,

Geng,

Wang

et al. 2024

J Mol Med

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The liver is a major metabolic organ of the human body and has a high incidence of diseases. In recent years, the annual incidence of liver disease has increased, seriously endangering human life and health. The study of the occurrence and development mechanism of liver diseases, discovery of new therapeutic targets, and establishment of new methods of medical treatment are major issues related to the national economy and people’s livelihood. The development of stable and effective research models is expected to provide new insights into the pathogenesis of liver diseases and the search for more effective treatment options. Organoid technology is a new in vitro culture system, and organoids constructed by human cells can simulate the morphological structure, gene expression, and glucose and lipid metabolism of organs in vivo, providing a new model for related research on liver diseases. This paper reviews the latest research progress on liver organoids from the establishment of cell sources and application of liver organoids and discusses their application potential in the field of liver disease research.

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Section: Monogenic Liver Disease Modelsmentioning

confidence: 99%

Research progress and application of liver organoids for disease modeling and regenerative therapy

Hu,

Geng,

Wang

et al. 2024

J Mol Med

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“…The incidence rate is 1:250,000 individuals [ 88 ], and deficiency in ASS activity induces the aggregation of toxic metabolites, such as citrulline or ammonia, in patients’ plasma [ 89 ], resulting in many clinical manifestations, such as vomiting, inappetence, and lethargic status, right after birth [ 90 ]. Restriction in protein intake and supplementation with ammonia scavengers in the diet are palliative treatments, while LT, once again, is the sole established curative treatment [ 91 ]. Yukie et al used disease-specific iPSCs for the modeling of the CTLN I.…”

Section: Urea Cycle Defectsmentioning

confidence: 99%

“…GSD III, also known as Cori or Forbes disease, is a disorder in which glycogen breakdown is limited because of the defect in glycogen debrancher enzyme [ 91 ]. Excessive accumulation of the glycogen with short outer branches (limited dextrin) mainly in the liver and muscle is caused by a mutation in the AGL gene that causes a genetic deficiency of glycogen debranching enzyme (GDE) [ 221 ].…”

Section: Glycogen Storage Diseasesmentioning

confidence: 99%

Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders

et al. 2022

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The majority of monogenic liver diseases are autosomal recessive disorders, with few being sex-related or co-dominant. Although orthotopic liver transplantation (LT) is currently the sole therapeutic option for end-stage patients, such an invasive surgical approach is severely restricted by the lack of donors and post-transplant complications, mainly associated with life-long immunosuppressive regimens. Therefore, the last decade has witnessed efforts for innovative cellular or gene-based therapeutic strategies. Gene therapy is a promising approach for treatment of many hereditary disorders, such as monogenic inborn errors. The liver is an organ characterized by unique features, making it an attractive target for in vivo and ex vivo gene transfer. The current genetic approaches for hereditary liver diseases are mediated by viral or non-viral vectors, with promising results generated by gene-editing tools, such as CRISPR-Cas9 technology. Despite massive progress in experimental gene-correction technologies, limitations in validated approaches for monogenic liver disorders have encouraged researchers to refine promising gene therapy protocols. Herein, we highlighted the most common monogenetic liver disorders, followed by proposed genetic engineering approaches, offered as promising therapeutic modalities.

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