Altered Cerebrospinal Fluid Proteins in Smith–Lemli–Opitz Syndrome

Altered Cerebrospinal Fluid Proteins in Smith–Lemli–Opitz Syndrome

Smith–Lemli–Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by pathological variants in the 7-dehydrocholesterol reductase gene (<i>DHCR7</i>), leading to impaired cholesterol biosynthesis. The biochemical results of these defects include the accumula...

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Dettagli Bibliografici
Autore principale: Wenping Li (440398) (author)
Altri autori: Melissa R. Pergande (5019329) (author), Fidel Serna-Perez (14796267) (author), Vinayak Patel (21686172) (author), Christopher A. Crutchfield (1520620) (author), Brian C. Searle (1520617) (author), Jaqueline A. Picache (1520608) (author), Nicole M. Farhat (13720443) (author), Christopher A. Wassif (125679) (author), Peter S. Backlund (125656) (author), Simona Bianconi (3472130) (author), Karel Pacak (63357) (author), Bethany A. Freel (21686175) (author), Kevin R. Francis (11974471) (author), Forbes D. Porter (125687) (author), Stephanie M. Cologna (125652) (author)
Pubblicazione: 2025
Soggetti:
Biochemistry
Medicine
Genetics
Molecular Biology
Neuroscience
Pharmacology
Virology
reelin signaling pathway
based mass spectrometry
assessing therapeutic efficacy
typically reduced cholesterol
impaired cholesterol biosynthesis
neurocognitive disorder caused
slos individuals compared
cholesterol precursor
neurocognitive impairments
utilized discovery
unaffected controls
slos present
reliable biomarkers
potential biomarkers
pathological variants
dopamine excretion
disease ’
dhcr7 </
dhc ),
developmental anomalies
defects include
curative treatment
could serve
cerebrospinal fluid
biochemical results
better understand
autosomal recessive
>), leading
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