Results 71 to 80 of about 16,551 (265)

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, EarlyView.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano, Giulia Apprato, Serena Francisco, Giuseppe Ermondi, Giulia Caron   +4 more
wiley   +1 more source

Severe axonal neuropathy is a late manifestation of SPG11 [PDF]

, 2016
Complex hereditary spastic paraplegia (HSP) is a clinically heterogeneous group of disorders usually inherited in an autosomal recessive manner. In the past, complex recessive spastic paraplegias have been frequently associated with SPG11 mutations but ...
Berardo, A, Chelban, V, Hamed, SA, Haridy, NA, Houlden, H, Manole, A, Reilly, MM   +6 more
core   +3 more sources

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls   +4 more
doaj   +1 more source

Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" [PDF]

, 2016
open11openBukvic, Nenad; Boaretto, Francesca; Loverro, Giuseppe; Susca, Francesco C.; Lovaglio, Rosaura; Patruno, Margherita; Bukvic, Dragoslav; Starcevic, Srdjan; Vazza, Giovanni; Mostaciuollo, Maria Luisa; Resta, NicolettaBukvic, Nenad; Boaretto ...
Boaretto, Francesca, Bukvic, Dragoslav, Bukvic, Nenad, Lovaglio, Rosaura, Loverro, Giuseppe, Mostaciuollo, Maria Luisa, Patruno, Margherita, Resta, Nicoletta, Starcevic, Srdjan, Susca, Francesco C., Vazza, Giovanni   +10 more
core   +1 more source

Electrical Stimulation of Denervated Muscle: A Narrative Review

Artificial Organs, EarlyView.
This review explores existing strategies for stimulating denervated muscle following lower motor neuron injury, including direct electrical stimulation of the muscle and artificial reinnervation to enable more comfortable and efficient indirect functional muscle stimulation.
Linshan Chu, Jonathan C. Jarvis, Brian J. Andrews, James J. FitzGerald   +3 more
wiley   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5)

Stem Cell Research, 2016
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 ...
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser   +4 more
doaj   +1 more source

A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

eNeurologicalSci, 2022
Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity,
Kensuke Daida, Yosuke Nishioka, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Nobutaka Hattori, Kenya Nishioka   +6 more
doaj   +1 more source

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests [PDF]

, 2018
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes May help in monitoring
Gómez-Andrés, David, López-López, Javier, Martín-Gonzalo, Juan Andrés, Pascual-Pascual, Samuel Ignacio, Pulido-Valdeolivas, Irene, Rausell, Estrella, Rodríguez-Andonaegui, Irene, Universitat Autònoma de Barcelona   +7 more
core   +5 more sources

L1CAM Promotes the Infiltrative Properties of Patient‐Derived Glioblastoma Cells

Cancer Science, EarlyView.
In vivo validation of L1CAM‐mediated GBM infiltration. Orthotopic transplantation of L1CAM‐expressing GBM cells into mouse brains demonstrated that L1CAM significantly promotes tumor cell infiltration and expansion in the brain parenchyma, confirming its critical role in the aggressive progression of GBM.
Asako Katsuma, Daisuke Kanematsu, Yukako Handa, Tomoko Shofuda, Atsuyo Yamamoto, Kayo Nishitani, Zhize Xiao, Daisuke Kawauchi, Kentarou Baba, Naoyuki Inagaki, Yonehiro Kanemura   +10 more
wiley   +1 more source