Results 51 to 60 of about 620 (115)

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series. [PDF]

Commun Med (Lond)
Pillai NR, Liu N, Li X, Li X, Ahrens-Nicklas R, Adang L, Eisengart JB, Bronken G, Gupta A, Lund TC, Whitley CB, Elsea SH, Orchard PJ.   +12 more
europepmc   +1 more source

An augmented transformer model trained on protein family specific variant data leads to improved prediction of variants of uncertain significance. [PDF]

Hum Genet
Joshi D, Pradhan S, Sajeed R, Srinivasan R, Rana S.   +4 more
europepmc   +1 more source

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency. [PDF]

Front Cell Dev Biol, 2022
Fleming A, Xuan LZ, Sanchez-Elexpuru G, Williams SV, Windell D, Gelb MH, Herbst ZM, Schlotawa L, Rubinsztein DC.   +8 more
europepmc   +1 more source

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency. [PDF]

Commun Med (Lond)
Presa M, Bailey RM, Ray S, Bailey L, Tata S, Murphy T, Piec PA, Combs H, Gray SJ, Lutz C.   +9 more
europepmc   +1 more source

A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation. [PDF]

Sci Rep, 2023
Mashima R, Ohira M, Okuyama T, Onodera M, Takada S.   +4 more
europepmc   +1 more source

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model. [PDF]

Commun Med (Lond)
Presa M, Pham V, Ray S, Piec PA, Ryan J, Billings T, Coombs H, Schlotawa L, Lund T, Ahrens-Nicklas RC, Lutz C.   +10 more
europepmc   +1 more source

Association of Rare Variants in ARSA with Parkinson's Disease. [PDF]

Mov Disord, 2023
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z.   +24 more
europepmc   +1 more source

Structural and Functional Integration of Tissue-Nonspecific Alkaline Phosphatase Within the Alkaline Phosphatase Superfamily: Evolutionary Insights and Functional Implications. [PDF]

Metabolites
Imam I, Rautureau GJP, Violot S, Drevet Mulard E, Magne D, Ballut L.   +5 more
europepmc   +1 more source

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. [PDF]

PLoS One, 2023
Ataei Z, Nouri Z, Tavakoli F, Pourreza MR, Narrei S, Tabatabaiefar MA.   +5 more
europepmc   +1 more source