Steven U Walkley
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Explore the profile of Steven U Walkley including associated specialties, affiliations and a list of published articles.
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55
Citations
2791
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Recent Articles
1.
Walkley S, Molholm S, Jordan B, Marion R, Wasserstein M
J Neurodev Disord
. 2024 Mar;
16(1):10.
PMID: 38491427
We describe a multidisciplinary teamwork approach known as "Operation IDD Gene Team" developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein...
2.
Walkley S
Neurosci Lett
. 2021 Aug;
762:136155.
PMID: 34358625
Lysosomal storage diseases were recognized and defined over a century ago as a class of disorders affecting mostly children and causing systemic disease often accompanied by major neurological consequences. Since...
3.
Huizing M, Hackbarth M, Adams D, Wasserstein M, Patterson M, Walkley S, et al.
Neurosci Lett
. 2021 Apr;
755:135896.
PMID: 33862140
Lysosomal free sialic acid storage disorder (FSASD) is an extremely rare, autosomal recessive, neurodegenerative, multisystemic disorder caused by defects in the lysosomal sialic acid membrane exporter SLC17A5 (sialin). SLC17A5 defects...
4.
Walkley S, Abbeduto L, Batshaw M, Bhattacharyya A, Bookheimer S, Christian B, et al.
Ann Neurol
. 2019 Jun;
86(3):332-343.
PMID: 31206741
Progress in addressing the origins of intellectual and developmental disabilities accelerated with the establishment 50 years ago of the Eunice Kennedy Shriver National Institute of Child Health and Human Development...
5.
Davidson J, Molitor E, Moores S, Gale S, Subramanian K, Jiang X, et al.
Biochim Biophys Acta Mol Cell Biol Lipids
. 2019 May;
1864(10):1545-1561.
PMID: 31051283
Niemann-Pick type C1 (NPC1) disease is a fatal neurovisceral disease for which there are no FDA approved treatments, though cyclodextrin (HPβCD) slows disease progression in preclinical models and in an...
6.
Boudewyn L, Walkley S
J Neurochem
. 2018 May;
148(5):669-689.
PMID: 29770442
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing...
7.
Ory D, Ottinger E, Farhat N, King K, Jiang X, Weissfeld L, et al.
Lancet
. 2017 Aug;
390(10104):1758-1768.
PMID: 28803710
Background: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological...
8.
Boudewyn L, Sikora J, Kuchar L, Ledvinova J, Grishchuk Y, Wang S, et al.
Neurobiol Dis
. 2017 Jun;
105:257-270.
PMID: 28610891
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from...
9.
Sikora J, Dworski S, Jones E, Kamani M, Micsenyi M, Sawada T, et al.
Am J Pathol
. 2017 Mar;
187(4):864-883.
PMID: 28342444
Farber disease is a rare autosomal recessive disorder caused by acid ceramidase deficiency that usually presents as early-onset progressive visceral and neurologic disease. To understand the neurologic abnormality, we investigated...
10.
Yang D, Stavrides P, Kumar A, Jiang Y, Mohan P, Ohno M, et al.
Hum Mol Genet
. 2017 Jan;
26(5):843-859.
PMID: 28062666
2-hydroxypropyl-β-cyclodextrin (CYCLO), a modifier of cholesterol efflux from cellular membrane and endo-lysosomal compartments, reduces lysosomal lipid accumulations and has therapeutic effects in animal models of Niemann-Pick disease type C and...