CLN3 Gene - GeneCards | CLN3 Protein | CLN3 Antibody
Dec 24, 2024 · CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin) is a Protein Coding gene. Diseases associated with CLN3 include Ceroid Lipofuscinosis, Neuronal, …
CLN3 disease - MedlinePlus
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 …
Nature：蛋白CLN3是清除溶酶体中的甘油磷酸二酯所必需的
Sep 27, 2022 · 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 …
The CLN3 gene and protein: What we know - PMC - PubMed …
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 …
Juvenile CLN3 Disease - Symptoms, Causes, Treatment | NORD
Oct 27, 2016 · 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 …
Entry - #204200 - CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 …
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 …
Hastings Lab - CLN3 Batten Disease - University of Michigan
CLN3 Batten disease is a fatal neurodegenerative, lysosomal storage disorder in children. Symptoms begin in early childhood and include vision loss, seizures, and loss of motor …
CLN3, at the crossroads of endocytic trafficking - PubMed
Sep 25, 2021 · CLN3 is a multipass transmembrane protein that primarily localizes to endosomes and lysosomes. Defects in endocytosis, autophagy, and lysosomal function are common …
CLN3 溶酶体/内体跨膜蛋白，battenin（CLN3）基因 | MCE
该基因编码一种参与溶酶体功能的蛋白质。 这方面的突变以及其他神经元蜡样-脂褐质沉积症 (CLN) 基因会导致神经退行性疾病，通常称为 Batten 病或统称为神经元蜡样脂褐质沉积症 …
Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
Aug 17, 2024 · Juvenile neuronal ceroid-lipofuscinosis (JNCL), also called Spielmeyer-Vogt-Sjögren disease or CLN3, is the most common inherited, autosomal recessive, …