Mark E Haskins
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Explore the profile of Mark E Haskins including associated specialties, affiliations and a list of published articles.
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75
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1786
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Recent Articles
11.
Sleeper M, Haskins M, Ponder K
Heart Metab
. 2016 Mar;
41:21-24.
PMID: 26937225
Cardiac disease causes morbidity in several lysosomal storage diseases, which are the result of deficient activity of lysosomal enzymes. Mucopolysaccharidosis (MPS) causes aortic and valvular disease, Pompe disease causes cardiac...
12.
Gurda B, de Guilhem de Lataillade A, Bell P, Zhu Y, Yu H, Wang P, et al.
Mol Ther
. 2015 Oct;
24(2):206-216.
PMID: 26447927
Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease arising from mutations in β-d-glucuronidase (GUSB), which results in glycosaminoglycan (GAG) accumulation and a variety of clinical manifestations including neurological disease....
13.
Peck S, ODonnell P, Kang J, Malhotra N, Dodge G, Pacifici M, et al.
Mol Genet Metab
. 2015 Oct;
116(3):195-203.
PMID: 26422116
Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient β-glucuronidase activity, which leads to the accumulation of incompletely degraded glycosaminoglycans (GAGs). MPS VII patients present with severe skeletal...
14.
Hinderer C, Bell P, Louboutin J, Zhu Y, Yu H, Lin G, et al.
Mol Ther
. 2015 May;
23(8):1298-1307.
PMID: 26022732
The potential host immune response to a nonself protein poses a fundamental challenge for gene therapies targeting recessive diseases. We demonstrate in both dogs and nonhuman primates that liver-directed gene...
15.
Bradbury A, Gurda B, Casal M, Ponder K, Vite C, Haskins M
Hum Gene Ther Clin Dev
. 2015 Feb;
26(1):27-37.
PMID: 25671613
Lysosomal storage disorders (LSDs) are inherited diseases that result from the intracellular accumulation of incompletely degraded macromolecules. The majority of LSDs affect both the peripheral and central nervous systems and...
16.
Hinderer C, Bell P, Gurda B, Wang Q, Louboutin J, Zhu Y, et al.
Proc Natl Acad Sci U S A
. 2014 Oct;
111(41):14894-9.
PMID: 25267637
Patients with mucopolysaccharidosis type I (MPS I), a genetic deficiency of the lysosomal enzyme α-l-iduronidase (IDUA), exhibit accumulation of glycosaminoglycans in tissues, with resulting diverse clinical manifestations including neurological, ocular,...
17.
Hinderer C, Bell P, Gurda B, Wang Q, Louboutin J, Zhu Y, et al.
Mol Ther
. 2014 Jul;
22(12):2018-2027.
PMID: 25027660
Enzyme replacement therapy has revolutionized the treatment of the somatic manifestations of lysosomal storage diseases (LSD), although it has been ineffective in treating central nervous system (CNS) manifestations of these...
18.
Chiaro J, ODonnell P, Shore E, Malhotra N, Ponder K, Haskins M, et al.
J Bone Miner Res
. 2014 Jun;
29(12):2610-7.
PMID: 24898323
Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease characterized by deficient α-L-iduronidase activity, leading to the accumulation of poorly degraded glycosaminoglycans (GAGs). Children with MPS I exhibit high incidence...
19.
Serratrice N, Cubizolle A, Ibanes S, Mestre-Frances N, Bayo-Puxan N, Creyssels S, et al.
J Control Release
. 2014 Mar;
181:22-31.
PMID: 24607662
Corneal transparency is maintained, in part, by specialized fibroblasts called keratocytes, which reside in the fibrous lamellae of the stroma. Corneal clouding, a condition that impairs visual acuity, is associated...
20.
Cubizolle A, Serratrice N, Skander N, Colle M, Ibanes S, Gennetier A, et al.
Mol Ther
. 2013 Dec;
22(4):762-73.
PMID: 24343103
Severe deficiency in lysosomal β-glucuronidase (β-glu) enzymatic activity results in mucopolysaccharidosis (MPS) VII, an orphan disease with symptoms often appearing in early childhood. Symptoms are variable, but many patients have...