Results 71 to 80 of about 97,768,729 (189)
Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig +5 more
wiley +1 more source
The mouse iduronate sulfatase gene: identification of a novel transcript.
, 1993 Complementary DNAs, cDNAs, coding for iduronate sulfatase (IDS, E.C.3.1.6.13) have been isolated and characterized in man and mouse. The murine cDNA (MTA16) was highly homologous to the human counterpart.
BALLABIO, ANDREA +6 more
core +1 more source
In vitro correction of iduronate-2-sulfatase deficiency by adenovirus-mediated gene transfer [PDF]
Gene Therapy, 1997 Hunter syndrome is a lethal lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase and characterized by severe skeletal and neurological symptoms. Only symptomatic treatments are available and, although bone marrow transplantation has been suggested, no encouraging results have been obtained so far.
DIFRANCESCO C +10 more
openaire +3 more sources
Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra +12 more
wiley +1 more source
Aβ‐ and tau‐associated neuroinflammatory signatures in Alzheimer's disease
Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.Abstract INTRODUCTION Neuroinflammation is increasingly recognized as a key contributor to Alzheimer's disease (AD) progression, with distinct responses linked to amyloid beta (Aβ) and tau pathology. Two detrimental waves of neuroinflammation have been proposed, the first during early Aβ accumulation, and the second during widespread tau deposition ...
Bruna Bellaver +23 more
wiley +1 more source
Molecular Ecology, Volume 35, Issue 8, April 2026.ABSTRACT In our rapidly changing world, evolution is likely to play an important role in facilitating the resilience of wildlife populations. The Sierra Nevada yellow‐legged frog (Rana sierrae) provides a rare example of recovery following severe declines caused by the amphibian chytrid fungus (Batrachochytrium dendrobatidis).
Allison Q. Byrne +3 more
wiley +1 more source
Mean intravenous and IT-L serum I2S concentration-time profiles.
, 2015 Error bars represent standard deviation.I2S, iduronate-2-sulfatase; IT-L, intrathecal lumbar; IV, intravenous.
Hongsheng Xie (716868) +3 more
core +1 more source
JIMD Reports, Volume 67, Issue 2, March 2026.Abstract Data from a phase 2/3, randomized, controlled, open‐label, multicenter trial in children with neuronopathic mucopolysaccharidosis II (MPS II; Hunter syndrome) older than 3 years suggested a benefit of intrathecal idursulfase‐IT on cognitive functioning in some patients. We describe a separate, parallel, open‐label, single‐arm, 52‐week substudy
Joseph Muenzer +14 more
wiley +1 more source
, 2016 CM, cisterna magna; CSF, cerebrospinal fluid; I2S, iduronate-2-sulfatase; IT-L, intrathecal-lumbar.
Bob Crooker (3232881) +4 more
core +1 more source
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome. [PDF]
, 2019 Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular fate of
Galli, Carmela +32 more
core +1 more source