Personalized Pharmacoperones for Lysosomal Storage Disorder

Haneef, Sabireen; C, George Priya Doss

doi:10.1016/bs.apcsb.2015.10.001

Cited by 19 publications

(18 citation statements)

References 134 publications

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“…Enzyme replacement therapy (ERT) involves intravenous administration of the deficient enzyme specific to each type of MPS (Valayannopoulos and Wijbug, 2011; Haneef and Doss, 2016). ERT is currently used to treat MPS I, MPS II, and MPS VI (Muenzer, 2014; Haneef and Doss, 2016).…”

Section: Mucopolysaccharidosismentioning

confidence: 99%

Section: Mucopolysaccharidosismentioning

confidence: 99%

“…ERT is currently used to treat MPS I, MPS II, and MPS VI (Muenzer, 2014; Haneef and Doss, 2016). Its use in the treatment of MPS IV type A (Morquio) is under observational study now that it has been FDA approved (Haneef and Doss, 2016; Regier and Tanpaiboon, 2016). Although, repeated administration ERT may improve some of the symptoms of MPS including respiratory function and mobility, it cannot reverse existing skeletal disease (Muenzer, 2014).…”

Section: Mucopolysaccharidosismentioning

confidence: 99%

“…It results from a deficiency of iduronate-2-sulphatase (Muenzer, 2011) which, similar to MPS I, leads to insufficient degradation of dermatin sulfate and heparin sulfate (Muenzer, 2011; Haneef and Doss, 2016; Motas et al, 2016). Idursulfase administration has resulted in reduced non-central nervous system symptoms of MPS II (Haneef and Doss, 2016). …”

Section: Mucopolysaccharidosismentioning

confidence: 99%

“…Hematopoietic stem cell transplantation (HSCT) and bone marrow transplantation are used to introduce unaffected donor cells into the body and correct the lysosomal disorder by the accompanied addition of the enzyme that was previously lacking (Haneef and Doss, 2016). HCST is recommended in treating Hurler syndrome (MPS I) with ERT pre-treatment for the best results (Clarke, 2011; Muenzer, 2014).…”

Section: Mucopolysaccharidosismentioning

confidence: 99%

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Skeletal Dysplasias: Growing Therapy for Growing Bones

et al. 2017

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Skeletal dysplasias represent a large and diverse group of rare conditions affecting collagen and bone. They can be clinically classified based on radiographic and physical features, and many can be further defined at a molecular level (Bonafe et al., 2015). Early diagnosis is critical to proper medical management including pharmacologic treatment when available. Patients with severe skeletal dysplasias often have small chests with respiratory insufficiency or airway obstruction and require immediate intubation after birth. Thereafter a variety of orthopedic, neurosurgical, pulmonary, otolaryngology interventions may be needed. In terms of definitive treatment for skeletal dysplasias, there are few pharmacotherapeutic options available for the majority of these conditions. We sought to describe therapies that are currently available or under investigation for skeletal dysplasias.

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Section: Mucopolysaccharidosismentioning

confidence: 99%

Section: Mucopolysaccharidosismentioning

confidence: 99%

Section: Mucopolysaccharidosismentioning

confidence: 99%

Section: Mucopolysaccharidosismentioning

confidence: 99%

Section: Mucopolysaccharidosismentioning

confidence: 99%

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Skeletal Dysplasias: Growing Therapy for Growing Bones

et al. 2017

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Endosome Dysregulation in Down Syndrome: A Potential Contributor to Alzheimer Disease Pathology

Filippone

Praticò

2021

Annals of Neurology

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Intracellular protein trafficking via the endosomes plays a key role in the maintenance of normal neuronal function. Although many diseases of the central nervous system exhibit specific pathological hallmarks, abnormalities of the endosome system are common traits for several of them, including Alzheimer disease (AD). Three main routes originate from the endosomes: the recycling, degradation, and retrograde pathways. Studies have shown that the majority of Down syndrome subjects develop AD pathology and manifest altered morphology and number of endosomes, and abnormalities in lysosome acidification and exosome secretion, suggesting that dysfunction of one of these pathways could play a functional role in the AD-like phenotype of the syndrome. Two of the major endosomal routes are mediated by the retromer complex, a multimeric system responsible for transport of cargo from the endosome to the trans-Golgi network or to the cell membrane. Recently, a new endosome system structurally related to the retromer, called "retriever," has been reported. Whereas we know a great deal about the neuropathophysiology of the retromer complex, no precise pathogenic role for the retriever has yet been identified. Here, we will review the neurobiology of the endosome system and its role as key player in the development of AD-like pathology in Down syndrome. Additionally, we will discuss current knowledge on these two main endosome systems, retromer and retriever, and their potential as novel therapeutic targets.

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