Rare Saposin A deficiency: Novel variant and psychosine analysis.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.08.001
Abstract: Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A… read more here.
Keywords: psychosine; deficiency; saposin deficiency; saposin ... See more keywords
The Catalytic Reaction Mechanism of the β-Galactocerebrosidase Enzyme Deficient in Krabbe Disease
Sign Up to like & getrecommendations! Published in 2020 at "ACS Catalysis"
DOI: 10.1021/acscatal.0c02609
Abstract: Krabbe disease is a neurodegenerative disorder related to misfunction of β-galactocerebrosidase (GALC), a glycosidase that cata-lyzes the cleavage of β-galactosidic bonds in glycosphingolipids. Her... read more here.
Keywords: krabbe; galactocerebrosidase; catalytic reaction; krabbe disease ... See more keywords
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0371-3
Abstract: PurposeNewborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we… read more here.
Keywords: blood spots; tool; disease; dried blood ... See more keywords
A new compound heterozygous mutation in adult-onset Krabbe disease
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Neuroscience"
DOI: 10.1080/00207454.2020.1731504
Abstract: Abstract Purpose: Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal disorder caused by a lack of the lysosomal enzyme galactocerebrosidase (GALC) because of mutations in GALC. Patients with KD exhibit a… read more here.
Keywords: krabbe disease; adult onset; compound heterozygous; mutation ... See more keywords
Prion-like α-synuclein pathology in the brain of infants with Krabbe disease
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac002
Abstract: Abstract Krabbe disease is an infantile neurodegenerative disorder resulting from pathogenic variants in the GALC gene that causes accumulation of the toxic sphingolipid psychosine. GALC variants are also associated with Lewy body diseases, an umbrella… read more here.
Keywords: krabbe disease; prion like; disease; brain ... See more keywords
Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac299
Abstract: Abstract Infantile Krabbe disease is a rapidly progressive and fatal disorder of myelin, caused by inherited deficiency of the lysosomal enzyme β-galactocerebrosidase. Affected children lose their motor skills and other faculties; uncontrolled seizures are a… read more here.
Keywords: krabbe disease; disease; canonical canonical; non canonical ... See more keywords
Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Neurology"
DOI: 10.1111/ene.15298
Abstract: 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… read more here.
Keywords: magnetic resonance; incidental magnetic; krabbe disease; resonance imaging ... See more keywords
An autopsy case report of adult‐onset Krabbe disease: Comparison with an infantile‐onset case
Sign Up to like & getrecommendations! Published in 2022 at "Pathology International"
DOI: 10.1111/pin.13275
Abstract: Krabbe disease is a lysosomal storage disease caused by a deficiency of the galactocerebrosidase (GALC) enzyme, which leads to demyelination of the central and peripheral nervous systems. Almost all patients with Krabbe disease are infants,… read more here.
Keywords: krabbe disease; adult onset; case; onset case ... See more keywords
Brain-targeted enzyme-loaded nanoparticles: A breach through the blood-brain barrier for enzyme replacement therapy in Krabbe disease
Sign Up to like & getrecommendations! Published in 2019 at "Science Advances"
DOI: 10.1126/sciadv.aax7462
Abstract: GALC-loaded nanoparticles can reinstate enzymatic activity in the brain of the mouse model of Krabbe disease. Lysosomal storage disorders (LSDs) result from an enzyme deficiency within lysosomes. The systemic administration of the missing enzyme, however,… read more here.
Keywords: krabbe disease; brain; loaded nanoparticles; enzymatic activity ... See more keywords
Benefits of Newborn Screening and Hematopoietic Cell Transplant in Infantile Krabbe Disease.
Sign Up to like & getrecommendations! Published in 2022 at "Blood advances"
DOI: 10.1182/bloodadvances.2021006094
Abstract: Infantile Krabbe Disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in eight U.S.… read more here.
Keywords: newborn screening; hct; disease; hematopoietic cell ... See more keywords
Usefulness of dexmedetomidine to prevent emergence agitation in a patient with Krabbe disease: a case report
Sign Up to like & getrecommendations! Published in 2018 at "JA Clinical Reports"
DOI: 10.1186/s40981-018-0171-4
Abstract: BackgroundWe report the case of a child with Krabbe disease who underwent three repeated surgeries and anesthetic management, and we discuss the major concerns about Krabbe disease and the usefulness of a perioperative administration of… read more here.
Keywords: prevent emergence; emergence agitation; krabbe disease; emergence ... See more keywords