Results 181 to 190 of about 27,697 (237)

Novel pathomechanistic insights into lysosomal storage disorders: how neuron-intrinsic cGAS-STING signaling drives disease progression. [PDF]

Signal Transduct Target Ther
Frosch M, Prinz M.
europepmc   +1 more source

Emerging Role of Ferroptosis in Diabetes and Associated Complications: When Metabolic Dysregulation Meets Cell Death

Cell Proliferation, EarlyView.
This study identifies ferroptosis as a key driver of diabetes and its complications via iron metabolism and lipid peroxidation, elucidates organelle interactions underlying cell vulnerability, and provides insights for targeted therapies against metabolic disorders.
Zheng Wang, Ying Zhang, Yue Xu, Mengyuan Yang, Yuan Wei, Yuan Li, Tongyue Yang, Xu Wang, Chaona Yang, Qi Feng, Guolan Xing   +10 more
wiley   +1 more source

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey. [PDF]

Orphanet J Rare Dis
Corazolla EM, Eskes ECB, Veldwijk J, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B.   +8 more
europepmc   +1 more source

Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains. [PDF]

Orphanet J Rare Dis
McDool E, Powell P, Carlton J.
europepmc   +1 more source

Newborn Screening for 6 Lysosomal Storage Disorders in China.

JAMA Netw Open
Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H.   +8 more
europepmc   +1 more source

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature. [PDF]

JIMD Rep
Sheth J, Nair A, Bhavsar R, Godbole K, Datar C, Nampoothiri S, Panigrahi I, Shah H, Bajaj S, Tayade N, Bhardwaj N, Sheth H.   +11 more
europepmc   +1 more source

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. [PDF]

Hum Genomics
Sheth H, Nair A, Bhavsar R, Kamate M, Gowda VK, Bavdekar A, Kadam S, Nampoothiri S, Panigrahi I, Kaur A, Shah S, Mehta S, Jagadeesan S, Suresh I, Kapoor S, Bajaj S, Devi RR, Prajapati A, Godbole K, Patel H, Luhar Z, Shah RC, Iyer A, Bijarnia S, Puri R, Muranjan M, Shah A, Magar S, Gupta N, Tayade N, Gandhi A, Sowani A, Kale S, Jalan A, Solanki D, Dalal A, Mane S, Prabha CR, Sheth F, Joshi CG, Joshi M, Sheth J.   +41 more
europepmc   +1 more source

Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients. [PDF]

Int J Mol Sci
Carvalho S, Santos JI, Moreira L, Duarte AJ, Gaspar P, Rocha H, Encarnação M, Ribeiro D, Barbosa Almeida M, Gonçalves M, David H, Matos L, Amaral O, Diogo L, Ferreira S, Santos C, Martins E, Prata MJ, Pereira de Almeida L, Alves S, Coutinho MF.   +20 more
europepmc   +1 more source