2024年12月24日 · CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, 3 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glycosphingolipid transport.

2016年10月27日 · Juvenile CLN3 disease is caused by changes (mutations) of the CLN3 gene and is inherited as an autosomal recessive trait. It is the most common form of NCL, is found worldwide, and is found particularly in families of Northern European or Scandinavian ancestry.

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

2023年7月3日 · Nature Communications - CLN3 mutations cause Batten disease, a devastating neurodegenerative lysosomal storage disease. Here, the authors discovered that CLN3 plays a crucial role in both...

2022年9月21日 · The lysosomal transmembrane protein CLN3 is required for the lysosomal clearance of glycerophosphodiesters in mice and in human cells, suggesting that the loss of CLN3 causes Batten disease in...

2022年9月27日 · 少年贝敦病是由编码一种叫做CLN3的蛋白的基因发生突变引起的，它是致命的，会导致儿童和年轻人的视力丧失、癫痫发作、进行性运动和智力退化。 CLN3蛋白存在于溶酶体的膜上，但没有人确定它在细胞中的功能，也没有人确定它的功能失调如何导致观察到的症状。 这些作者利用他们的LysoTag小鼠，发现携带CLN3致病突变的小鼠中一种叫做甘油磷酸二酯（glycerophosphodiester, GPD）的分子数量急剧增加。 GPD是在构成我们身体每个细胞膜的 …

CLN3 was discovered using linkage analysis in search for the disease causing gene (mutation) in 48 children with progressive vision loss, seizures, decline of intellect and loss of motor ability (Eiberg, Gardiner, & Mohr, 1989).

CLN3 mutation is associated with neuronal ceroid lipofuscinosis. Genetic testing for CLN3 should be considered in autophagic vacuolar myopathy (AVM), with autophagic vacuoles and sarcolemmal features. CLN3 was identified as a novel disease gene for non-syndromic retinal diseases as supported by five unrelated patient families in this study.

The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles.

CLN3 disease is an inherited disorder that begins in childhood and primarily affects the nervous system. People with this condition develop worsening vision impairment, intellectual disability, movement problems, speech difficulties, and seizures.