Results 91 to 100 of about 477,265 (189)

Image_11_Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.TIF

, 2022
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Deborah C. Mash (12516796), Ali Salahpour (239589), Charles Sutton (5191816), Dong Han (199240), Pieter Beerepoot (5712680), Amy J. Ramsey (2002120), Bruce Blough (2042590), David E. Olson (1987003), Erin Q. Williams (12516787), Reza Nazari (12516793), Hoomam Homsi (12516790)   +10 more
core   +1 more source

Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

, 2010
The recent approval of sapropterin dihydrochloride, the synthetic form of 6[R]-l-erythro-5,6,7,8-tetrahydrobiopterin (BH4), for the treatment of phenylketonuria (PKU) as the first pharmacological chaperone drug initiated a paradigm change in the ...
Staudigl, Michael, Lagler, Florian B, Zsifkovits, Clemens, Messing, Dunja D, Gersting, Søren W, Eichinger, Anna, Roscher, Adelbert A, Muntau, Ania C, Danecka, Marta K, Kemter, Kristina F, Fingerhut, Ralph, Glossmann, Hartmut, Domdey, Katharina A   +12 more
core   +1 more source

Dimeric structure of the bacterial extracellular foldase PrsA [PDF]

, 2015
Secretion of proteins into the membrane-cell wall space is essential for cell wall biosynthesis and pathogenicity in Gram-positive bacteria. Folding and maturation of many secreted proteins depend on a single extracellular foldase, the PrsA protein. PrsA
Schmidpeter, Philipp A. M., Hiller, Sebastian, Schmid, Franz X., Hunkeler, Moritz, Burmann, Björn M., Maier, Timm, Jakob, Roman P., Koch, Johanna R., Schmid FX, Schmidpeter, Philip A.M. (author), Jakob RP, Burmann, Björn M. (author), Hunkeler (author), Maier T, Hunkeler M, Hiller S, Burmann BM, Koch, Johanna R. (author), Jakob, Roman (author), Schmidpeter PA, Koch JR   +20 more
core   +1 more source

Image_5_Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.TIF

, 2022
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Deborah C. Mash (12516796), Ali Salahpour (239589), Charles Sutton (5191816), Dong Han (199240), Pieter Beerepoot (5712680), Amy J. Ramsey (2002120), Bruce Blough (2042590), David E. Olson (1987003), Erin Q. Williams (12516787), Reza Nazari (12516793), Hoomam Homsi (12516790)   +10 more
core   +1 more source

Image_2_Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.TIF

, 2022
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Deborah C. Mash (12516796), Ali Salahpour (239589), Charles Sutton (5191816), Dong Han (199240), Pieter Beerepoot (5712680), Amy J. Ramsey (2002120), Bruce Blough (2042590), David E. Olson (1987003), Erin Q. Williams (12516787), Reza Nazari (12516793), Hoomam Homsi (12516790)   +10 more
core   +1 more source

Azasugar inhibitors as pharmacological chaperones for Krabbe disease

Chemical Science, 2015
Modified azasugar molecules have been synthesized and characterized as excellent pharmacological chaperone candidates to treat the neurodegenerative disorder Krabbe disease.
Hill, Chris H, Viuff, Agnete H, Spratley, Samantha J, Salamone, Stéphane, Christensen, Stig H, Read, Randy J, Moriarty, Nigel W, Jensen, Henrik H, Deane, Janet E   +8 more
openaire   +4 more sources

Pharmacological Chaperone Design for Reducing Risk Factor of Parkinson's Disease from Traditional Chinese Medicine

, 2014
[[abstract]]Dysfunction of β-glucocerebrosidase (GCase) has no hydrolytic activity in patients of Gaucher's disease and increasing the risk factor for Parkinson’s disease occurrence.
Hua, Hung-Jin;Huang, Hung-Jin;Cheng-Chun, L;Lee, Cheng-Chun;陳語謙;Chen, Calvin Yu-chian, Hung-Jin Huang;Cheng-Chun Lee;Calvin Yu-Chian Chen   +1 more
core  

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

, 2009
In spite of the progress in the treatment of lysosomal storage diseases (LSDs), in some of these disorders the available therapies show limited efficacy and a need exists to identify novel therapeutic strategies.
Tarallo A, BARONE, MARIA VITTORIA, Cardone M, Porto C, Fontana F, PARENTI, GIANCARLO, Rossi B, Tuzzi MR, ANDRIA, GENEROSO, Rossi, Barbara, Porto, Caterina, Fontana, Federica, Tarallo, Antonietta, Tuzzi, Maria Rosaria, Cardone, Monica   +14 more
core   +1 more source

Image_10_Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.TIF

, 2022
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Deborah C. Mash (12516796), Ali Salahpour (239589), Charles Sutton (5191816), Dong Han (199240), Pieter Beerepoot (5712680), Amy J. Ramsey (2002120), Bruce Blough (2042590), David E. Olson (1987003), Erin Q. Williams (12516787), Reza Nazari (12516793), Hoomam Homsi (12516790)   +10 more
core   +1 more source

Image_9_Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones.TIF

, 2022
Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Deborah C. Mash (12516796), Ali Salahpour (239589), Charles Sutton (5191816), Dong Han (199240), Pieter Beerepoot (5712680), Amy J. Ramsey (2002120), Bruce Blough (2042590), David E. Olson (1987003), Erin Q. Williams (12516787), Reza Nazari (12516793), Hoomam Homsi (12516790)   +10 more
core   +1 more source