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Quoted phrase not found in phrase index: "Reduced galactocerebrosidase activity"
Page 1
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Iacono D, Koga S, Peng H, Manavalan A, Daiker J, Castanedes-Casey M, Martin NB, Herdt AR, Gelb MH, Dickson DW, Lee CW. Iacono D, et al. Neurobiol Dis. 2022 Nov;174:105862. doi: 10.1016/j.nbd.2022.105862. Epub 2022 Sep 14. Neurobiol Dis. 2022. PMID: 36113749 Free PMC article.
Mature GALC could also be quantitatively detected as a 26 kDa band by western blotting and correlated to enzyme activity in brain tissues. The p.Ile562Thr polymorphic variant, which is over-represented in the KD population, was associated with reduced mature GALC pr …
Mature GALC could also be quantitatively detected as a 26 kDa band by western blotting and correlated to enzyme activity in brain tis …
Alpha galactosidase A activity in Parkinson's disease.
Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK. Alcalay RN, et al. Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2. Neurobiol Dis. 2018. PMID: 29369793 Free PMC article.
It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. ...The enzymatic activity of acid sphingomyelinase, acid alpha-glucosidase and galactosylceramidase was not significantly different between PD an …
It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. ...The enzymatic …
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Shin D, Feltri ML, Wrabetz L. Shin D, et al. J Neurosci. 2016 Feb 10;36(6):1858-70. doi: 10.1523/JNEUROSCI.3095-15.2016. J Neurosci. 2016. PMID: 26865610 Free PMC article.
Cord blood transplant slows disease progression much more effectively when performed presymptomatically, highlighting the importance of early diagnosis. Current diagnosis is based on reduced GALC activity, DNA sequence, and clinical examination. However, presymptoma …
Cord blood transplant slows disease progression much more effectively when performed presymptomatically, highlighting the importance of earl …
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J. Thompson-Stone R, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):53-59. doi: 10.1016/j.ymgme.2021.03.016. Epub 2021 Apr 3. Mol Genet Metab. 2021. PMID: 33832819 Free article.
RESULTS: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. …
RESULTS: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, …
Visual System Impairment in a Mouse Model of Krabbe Disease: The Twitcher Mouse.
Tonazzini I, Cerri C, Del Grosso A, Antonini S, Allegra M, Caleo M, Cecchini M. Tonazzini I, et al. Biomolecules. 2020 Dec 23;11(1):7. doi: 10.3390/biom11010007. Biomolecules. 2020. PMID: 33374753 Free PMC article.
It is caused by genetic alterations in the gene encoding for the enzyme galactosylceramidase, which is responsible for cleaving the glycosydic linkage of galatosylsphingosine (psychosine or PSY), a highly cytotoxic molecule. ...Specific neuropathological alterations are pr …
It is caused by genetic alterations in the gene encoding for the enzyme galactosylceramidase, which is responsible for cleaving the g …
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML. Beltran-Quintero ML, et al. Orphanet J Rare Dis. 2019 Feb 18;14(1):46. doi: 10.1186/s13023-019-1018-4. Orphanet J Rare Dis. 2019. PMID: 30777126 Free PMC article.
BACKGROUND: Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, beta-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. ...Results of nerve conduction studies showed that 100% of patien …
BACKGROUND: Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, beta-galactocerebrosidase, …
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. Guenzel AJ, et al. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546 Free article.
PURPOSE: Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity as the primary test. This revealed that GALC activity has poor specificity for KD. Psychosine (PSY) was proposed as a disease marker u …
PURPOSE: Newborn screening (NBS) for Krabbe disease (KD) is performed by measurement of galactocerebrosidase (GALC) activity a …
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
Satoh JI, Tokumoto H, Kurohara K, Yukitake M, Matsui M, Kuroda Y, Yamamoto T, Furuya H, Shinnoh N, Kobayashi T, Kukita Y, Hayashi K. Satoh JI, et al. Neurology. 1997 Nov;49(5):1392-9. doi: 10.1212/wnl.49.5.1392. Neurology. 1997. PMID: 9371928 Review.
Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) activity, typical inclusions in Schwann cell cytoplasm, and an identification of the homozygous point mutation T1835C (Leu618Ser) in the G …
Intellectual capacity was normal. Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase (GALC) ac …
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease.
Paiva ARB, Fonseca Neto RE, Afonso CL, Freua F, Nóbrega PR, Kok F. Paiva ARB, et al. Eur J Neurol. 2022 Jun;29(6):1859-1862. doi: 10.1111/ene.15298. Epub 2022 Mar 9. Eur J Neurol. 2022. PMID: 35212100
BACKGROUND AND PURPOSE: Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal recessive lysosomal storage disease caused by mutations in GALC leading to galactocerebrosidase deficiency. Age at onset can vary from …
BACKGROUND AND PURPOSE: Krabbe disease (KD), or globoid cell leukodystrophy (Online Mendelian Inheritance in Man #245200), is an autosomal r …
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.
Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D. Turgeon CT, et al. J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12. J Inherit Metab Dis. 2015. PMID: 25762404
BACKGROUND: Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase (GALC) activity using tandem mass spectrometry (MS/MS). These NBS efforts have shown that the incidence of KD is unexpectedly low (1:4 …
BACKGROUND: Newborn screening (NBS) for Krabbe disease (KD) in New York and Missouri is conducted by measuring galactocerebrosidase ( …
17 results