2 Neuronal Ceroid Lipofuscinosis

mutation on tripeptidyl-peptidase 1

Also Known As:

Ceroid Lipofuscinosis, Neuronal, 2; Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset

Networked: 5 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurodegenerative Diseases: 42472
  - Nervous System Heredodegenerative Disorders: 63
    - Neuronal Ceroid-Lipofuscinoses: 1138
      - 2 Neuronal Ceroid Lipofuscinosis: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        2 Neuronal Ceroid Lipofuscinosis: 5
  - Nervous System Heredodegenerative Disorders: 63
    - Neuronal Ceroid-Lipofuscinoses: 1138
      - 2 Neuronal Ceroid Lipofuscinosis: 5
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        2 Neuronal Ceroid Lipofuscinosis: 5
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Neuronal Ceroid-Lipofuscinoses: 1138
        2 Neuronal Ceroid Lipofuscinosis: 5

Related Diseases

1.	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
2.	Neoplasm Metastasis (Metastasis)
3.	Type A Niemann-Pick Disease
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1.	Gelb, Michael H: 1 article (06/2017)
2.	Hong, Xinying: 1 article (06/2017)
3.	Kumar Chennamaneni, Naveen: 1 article (06/2017)
4.	Kumar, Arun Babu: 1 article (06/2017)
5.	Liu, Yang: 1 article (06/2017)
6.	Scott, C Ronald: 1 article (06/2017)
7.	Turecek, Frantisek: 1 article (06/2017)
8.	Yi, Fan: 1 article (06/2017)
9.	Fiehler, J: 1 article (10/2016)
10.	Kohlschütter, A: 1 article (10/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 2 Neuronal Ceroid Lipofuscinosis:

1.	Serine Proteases (Serine Protease)IBA 04/01/2006 - "In the current study, using subtraction cloning for genes that are differentially expressed in metastasis, the authors isolated a clone encoding ceroid lipofuscinosis, neuronal 2 (CLN2), which is a lysosomal serine protease defective in neuronal ceroid lipofuscinosis (NCL). "
2.	EnzymesIBA 06/01/2017 - "The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL). " 07/01/2001 - "Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-hamster ovary cells engineered to secrete high levels of the enzyme. "
3.	Tocopherols (Tocopherol)IBA 11/16/2012 - "Consistent with a general mechanism for reduction of lysosomal lipid accumulation, we also found that δ-tocopherol reduces pathological phenotypes in patient fibroblasts from other lysosomal storage diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo type B (mucopolysaccharidosis type IIIB, MPSIIIB), and Tay-Sachs. "
4.	Proteins (Proteins, Gene)FDA Link 07/01/2001 - "Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-hamster ovary cells engineered to secrete high levels of the enzyme. "
5.	LipidsIBA 11/16/2012 - "Consistent with a general mechanism for reduction of lysosomal lipid accumulation, we also found that δ-tocopherol reduces pathological phenotypes in patient fibroblasts from other lysosomal storage diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry, Farber, Niemann-Pick disease type A, Sanfilippo type B (mucopolysaccharidosis type IIIB, MPSIIIB), and Tay-Sachs. "
6.	Tripeptidyl-Peptidase 1IBA 07/01/2001 - "Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-hamster ovary cells engineered to secrete high levels of the enzyme. "

Therapies and Procedures

1.	Investigational Therapies (Experimental Therapy) 10/01/2016 - "Experimental therapies for ceroid lipofuscinosis, neuronal, 2 (CLN2), a genetic disorder of childhood associated with progressive brain atrophy, are currently being developed. "
2.	Therapeutics 07/01/2001 - "Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal recessive childhood disease caused by mutations in the CLN2 gene, which encodes the lysosomal enzyme tripeptidyl peptidase I. As a step towards understanding the protein and developing therapeutics for the disease, we have produced and characterized recombinant human CLN2 (ceroid lipofuscinosis, neuronal 2) protein from Chinese-hamster ovary cells engineered to secrete high levels of the enzyme. "