Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder

scientific article published on 25 April 2018

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3390/DIAGNOSTICS8020029
P932PMC publication ID6023449
P698PubMed publication ID29693572

P50authorConsolato SergiQ45664416
P2093author name stringAiza Khan
P2860cites workCharacterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosisQ24310793
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosisQ28256476
Neuraminidase 1 is a negative regulator of lysosomal exocytosisQ30486788
Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutationQ31980558
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosisQ33587948
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient miceQ33637287
Lysosomal multienzyme complex: pros and cons of working togetherQ33682632
Sialidosis: a review of human neuraminidase deficiencyQ33898281
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complexQ33898327
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisQ33924296
Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patientQ34084901
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.Q34101168
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymesQ34112807
Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.Q34133659
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosisQ34418454
Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).Q36481831
Pathogenesis, Emerging therapeutic targets and Treatment in SialidosisQ36649026
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosisQ37224436
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.Q38210178
Sialidosis type I: ophthalmological findings.Q38260885
Sialidoses.Q38952836
Cherry-red spot myoclonus syndrome and alpha-neuraminidase deficiency: neurophysiological, pharmacological and biochemical study in an adultQ39241410
The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosisQ39296453
Neuraminidase deficiency: case report and review of the phenotypeQ39772950
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expressionQ40604011
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.Q42723830
Positive regulation of insulin signaling by neuraminidase 1.Q43090881
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 geneQ43719873
Mucolipidosis I — A sialidosisQ43801611
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patientsQ44810122
Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementiaQ44975342
Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascitesQ44989094
Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalisQ46126186
Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spotsQ46487106
Short-term, high dose enzyme replacement therapy in sialidosis miceQ46567099
Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infantQ48142476
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.Q52103898
NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.Q53260096
Type I sialidosis: a clinical, biochemical and neuroradiological studyQ57188866
Congenital sialidosisQ64050009
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblastsQ67546931
Urinary oligosaccharide excretion and severity of galactosialidosis and sialidosisQ67833606
Colour Doppler imaging of intracranial vasculopathy in severe infantile sialidosisQ68023048
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[Primary neuraminidase deficiency with prenatal disclosure]Q69571241
The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency geneQ69870952
Congenital ascites as a presenting sign of lysosomal storage diseaseQ70463452
Infantile type 2 sialidosis in a Pakistani family--a clinical and biochemical studyQ70507675
Mucolipidosis I (acid neuraminidase deficiency). Three cases and delineation of the variability of the phenotypeQ70895964
A severe infantile mucolipidosis. Clinical, biochemical, and pathologic featuresQ71243744
Neuraminidase deficiency presenting as non-immune hydrops fetalisQ72834626
[Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis]Q74083790
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in miceQ74148100
Clinical variability of type II sialidosis by C808T mutationQ78775987
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type IQ80879905
Long-term follow-up of metachronous marrow-kidney transplantation in severe type II sialidosis: what does success mean?Q81037873
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidaseQ81772399
[Anesthetic management of a boy with sialidosis]Q83372118
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue2
P921main subjectmolecular biologyQ7202
sialidosisQ55787312
P577publication date2018-04-25
P1433published inDiagnosticsQ27726498
P1476titleSialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder
P478volume8

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cites work (P2860)
Q99635692Bergmeister's papilla in a young patient with type 1 sialidosis: case report
Q89509285Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease
Q59336857Promptly reporting of critical laboratory values in pediatrics: A work in progress
Q92759083Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients

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