Results 91 to 100 of about 763 (113)

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

Brain and Development, 1999
Carbohydrate-deficient glycoprotein syndrome type I (CDG1) is an autosomal recessive disorder characterized by severe nervous system involvement and a carbohydrate moiety deficiency in N-linked glycoproteins. Clinical symptoms are psychomotor retardation, stroke-like episodes or hemorrhagic episodes, hepatic dysfunction, polyneuropathy, and cerebellar ...
K, Mizugishi, K, Yamanaka, K, Kuwajima, I, Yuasa, K, Shigemoto, I, Kondo   +5 more
openaire   +2 more sources

Towards a therapy for phosphomannomutase 2 deficiency: the prodrug approach for the delivery of alpha-glucose-1,6-bisphosphate

2019
Phosphomannomutase2 deficit, or PMM2-CDG, is the most common congenital disorder of glycosylation affecting over 1,000 patients globally and it is still without a cure. The majority of the mutations causing the disease destabilize PMM2, which, under physiological conditions, catalyses the conversion of mannose-6-phosphate into mannose- 1-phosphate ...
Sodano F, Rolando B, Rimoli MG, Cubellis MV, Monticelli M, Allocca M, Liguori L, Andreotti G, Lazzarato L   +8 more
openaire   +3 more sources

Taurine deficiency as a driver of aging

Science, 2023
Parminder Singh, , Stefano Mangiola
exaly  

MLH1 Deficiency-Triggered DNA Hyperexcision by Exonuclease 1 Activates the cGAS-STING Pathway

Cancer Cell, 2021
Junhong Guan, Changzheng Lu, Huiming Lu
exaly  

Exhaustion-associated cholesterol deficiency dampens the cytotoxic arm of antitumor immunity

Cancer Cell, 2023
Chenqi Xu
exaly  

Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic

Ca-A Cancer Journal for Clinicians, 2011
Timothy A Yap, Johann Sebastian de Bono
exaly  

Vitamin B12 deficiency

Nature Reviews Disease Primers, 2017
Ralph Green, Lindsay H Allen, Anne-Lise Bjørke-Monsen   +2 more
exaly  

Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial

Lancet, The, 2015
Kenneth R Chapman, Robert A Sandhaus, Berend C Stoel   +2 more
exaly  

Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

Lancet, The, 2023
exaly  

Hypoglycosylation of Piezo1 and Cavα2δ subunit: relevance for neuronal excitability and neurological disorders associated to Phosphomannomutase 2 deficiency (PMM2-CDG)

The congenital disorders of glycosylation (CDGs) are a disease family caused by mutations in genes involved in the glycosylation pathways. PMM2-CDG, associated with mutations in the phosphomannomutase 2 (PMM2) gene, is the most common CDG subtype and presents with severe neurological alterations such as stroke-like episodes (SLEs).
openaire   +1 more source