Add to ORKGThe NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that remove the terminal sialic acid from oligosaccharide chains. Mutations in NEU1 gene are causative of sialidosis (MIM 256550), a severe lysosomal storage disorder showing autosomal recessive mode of inheritance. Sialidosis has been classified into two subtypes: sialidosis type I, a normomorphic, late-onset form, and sialidosis type II, a more severe neonatal or early-onset form. A total of 50 causative mutations are reported in HGMD database, most of which are missense variants. To further characterize the NEU1 gene and identify new functionally relevant protein isoforms, we decided to study its genetic variability in the human population using...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
<div><p>The <i>NEU1</i> gene is the first identified member of the human sialidases, glycohydrolitic...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosom...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive lysosomal storage disease caused by mutations in the neuraminid...
Sialic acid residues are frequently located at the terminal positions of glycoconjugate chains of ce...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
<div><p>The <i>NEU1</i> gene is the first identified member of the human sialidases, glycohydrolitic...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosom...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive lysosomal storage disease caused by mutations in the neuraminid...
Sialic acid residues are frequently located at the terminal positions of glycoconjugate chains of ce...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1...
Sialidases (EC 3.2.1.18) are a group of glycohydrolytic enzymes, widely distributed in nature, that ...