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Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage disease (e.g. Schindler disease), peroxisomal disorders, porphyrias, and other types (e.g. giant axonal neuropathy, Tangier disease). ...
TMEM240), hereditary spastic paraplegias (e.g UBAP1), lysosomal storage disease (e.g. Schindler disease), peroxisomal disorder …
Low α-N-acetylgalactosaminidase plasma concentration correlates with the presence and severity of the bipolar affective disorder.
Yilmaz S, Öner P. Yilmaz S, et al. World J Biol Psychiatry. 2023 Feb;24(2):187-194. doi: 10.1080/15622975.2022.2124451. Epub 2022 Sep 27. World J Biol Psychiatry. 2023. PMID: 36102137
CONCLUSIONS: Low alpha-N-acetylgalactosaminidase concentrations may cause the accumulation of some glycoproteins in the lysosomes in the brain during the gestational period, producing the clinical symptoms of BAD. alpha-N-acetylgalactosaminidase deficiency …
CONCLUSIONS: Low alpha-N-acetylgalactosaminidase concentrations may cause the accumulation of some glycoproteins in the lysosomes in the bra …
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC. Naumchik BM, et al. Cells. 2020 Jun 5;9(6):1411. doi: 10.3390/cells9061411. Cells. 2020. PMID: 32517081 Free PMC article. Review.
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by specific lys …
The glycoprotein disorders are a group of lysosomal storage diseases (alpha-mannosidosis, aspartylglucosaminuria, beta-mannosidosis, fucosid …
Exploration of Structural and Functional Variations Owing to Point Mutations in α-NAGA.
Meshach Paul D, Rajasekaran R. Meshach Paul D, et al. Interdiscip Sci. 2018 Mar;10(1):81-92. doi: 10.1007/s12539-016-0173-8. Epub 2016 May 2. Interdiscip Sci. 2018. PMID: 27138754
Schindler disease is a lysosomal storage disorder caused due to deficiency or defective activity of alpha-N-acetylgalactosaminidase (alpha-NAGA). ...Hence, variations exhibited by mutants, namely S160C, E325K, R329Q and R329W to that of native, consequently, lead to …
Schindler disease is a lysosomal storage disorder caused due to deficiency or defective activity of alpha-N-acetylgalactosamin …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. ...
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase …
Application of ion mobility tandem mass spectrometry to compositional and structural analysis of glycopeptides extracted from the urine of a patient diagnosed with Schindler disease.
Sarbu M, Zhu F, Peter-Katalinić J, Clemmer DE, Zamfir AD. Sarbu M, et al. Rapid Commun Mass Spectrom. 2015 Nov 15;29(21):1929-37. doi: 10.1002/rcm.7288. Rapid Commun Mass Spectrom. 2015. PMID: 26443390
RATIONALE: Schindler disease is caused by the deficient activity of alpha-N-acetylgalactosaminidase, which leads to an abnormal accumulation of O-glycopeptides in tissues and body fluids. ...The structural analysis by CID MS/MS in combination with IMS-MS of species …
RATIONALE: Schindler disease is caused by the deficient activity of alpha-N-acetylgalactosaminidase, which leads to an abnorma …
A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.
Mohamed FE, Al Sorkhy M, Ghattas MA, Al-Zaabi N, Al-Shamsi A, Almansoori TM, Al-Gazali L, Al-Dirbashi OY, Al-Jasmi F, Ali BR. Mohamed FE, et al. J Mol Neurosci. 2020 Jan;70(1):45-55. doi: 10.1007/s12031-019-01398-6. Epub 2019 Aug 29. J Mol Neurosci. 2020. PMID: 31468281
Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosaminidase (alpha-NAGA) activity due to defects in the NAGA gene. ...Functional analysis confirmed the pathogenicity of the identified missense …
Schindler disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in alpha-N-acetylgalactosami …
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R. Piraud M, et al. Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860. Rapid Commun Mass Spectrom. 2017. PMID: 28370531
In urine, it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, aspartylglucosaminuria, GM1 gangliosidosis, sialidosis, galactosialidosis and Schindler disease), but also extends the field o …
In urine, it allows not only the identification of all the oligosaccharidoses previously identified by TLC (fucosidosis, alphamannosidosis, …