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Mouse Anti-NAGLU Recombinant Antibody (CBWJN-0075) (CBMAB-N1080-WJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBWJN-0075
Antibody Isotype
IgG2a, κ
Application
WB

Basic Information

Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.2
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
N-acetylglucosaminidase, alpha-
Introduction
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
Entrez Gene ID
4669
UniProt ID
P54802
Alternative Names
N-Acetyl-Alpha-Glucosaminidase; N-Acetylglucosaminidase, Alpha; NAG; Testicular Tissue Protein Li 18; Alpha-N-Acetylglucosaminidase; Sanfilippo Disease IIIB; EC 3.2.1.50;
Function
Involved in the degradation of heparan sulfate.
Biological Process
Cerebellar Purkinje cell layer development Source: Ensembl
Glycosaminoglycan catabolic process Source: Reactome
Inner ear receptor cell development Source: Ensembl
Locomotor rhythm Source: Ensembl
Lysosome organization Source: Ensembl
Middle ear morphogenesis Source: Ensembl
Nervous system development Source: ProtInc
Retinal rod cell development Source: Ensembl
Cellular Location
Lysosome
Involvement in disease
Mucopolysaccharidosis 3B (MPS3B):
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Charcot-Marie-Tooth disease 2V (CMT2V):
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia.
More Infomation

Rouse, C. J., Hawkins, K., Kabbej, N., Dalugdug, J., Kunta, A., Kim, M. J., ... & Heldermon, C. D. (2023). Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector. Human Molecular Genetics, 32(3), 417-430.

Xing, C., Jiang, Z., & Wang, Y. (2022). Downregulation of NAGLU in VEC Increases Abnormal Accumulation of Lysosomes and Represents a Predictive Biomarker in Early Atherosclerosis. Frontiers in Cell and Developmental Biology, 9, 797047.

Bruno, L. P., Fava, F., Baldassarri, M., Salvati, V. M., Scandurra, V., Canitano, R., ... & Ariani, F. (2021). Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay. Journal of Autism and Developmental Disorders, 1-3.

Ozkinay, F., Emecen, D. A., Kose, M., Isik, E., Bozaci, A. E., Canda, E., ... & Onay, H. (2021). Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations. Molecular Genetics and Metabolism Reports, 27, 100732.

Gougeon, M. L., Poirier-Beaudouin, B., Ausseil, J., Zérah, M., Artaud, C., Heard, J. M., ... & Tardieu, M. (2021). Cell-mediated immunity to NAGLU transgene following intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome. Frontiers in Immunology, 12, 655478.

Zhu, S., Jagadeesh, Y., Tran, A. T., Imaeda, S., Boraston, A., Alonzi, D. S., ... & Blériot, Y. (2021). Iminosugar C‐Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease. Chemistry–A European Journal, 27(44), 11291-11297.

Raj, K., Ellinwood, N. M., & Giger, U. (2020). An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs. Scientific Reports, 10(1), 3170.

Pierzynowska, K., Mański, A., Limanówka, M., Wierzba, J., Gaffke, L., Anikiej, P., & Węgrzyn, G. (2020). Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c. 638C> T/c. 889C> T (p. Pro213Leu/p. Arg297Ter) mutations in the NAGLU gene. Molecular genetics & genomic medicine, 8(9), e1356.

Benetó, N., Cozar, M., Gort i Mas, L., Pacheco, L., Vilageliu i Arqués, L., Grinberg Vaisman, D. R., & Canals Montferrer, I. (2020). Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome. Stem Cell Research, 2020, vol. 42, p. 101668.

Prill, H., Luu, A., Yip, B., Holtzinger, J., Lo, M. J., Christianson, T. M., ... & Lawrence, R. (2019). Differential uptake of NAGLU-IGF2 and unmodified NAGLU in cellular models of Sanfilippo syndrome type B. Molecular Therapy-Methods & Clinical Development, 14, 56-63.

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For research use only. Not intended for any clinical use.

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