Results 101 to 110 of about 143,066 (307)

Inherited metabolic disorders in Cyprus

Molecular Genetics and Metabolism Reports
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD.
Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou   +17 more
openaire   +3 more sources

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, EarlyView.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source

Recent progress in identifying genetic and epigenetic contributions to epilepsy

Reproductive and Developmental Medicine, 2017
Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely ...
Zi-Ying Hu, Hong-Yan Wang, Yi Wang
doaj   +1 more source

A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism. [PDF]

Clin Epigenetics, 2023
Matmat K, Conart JB, Graindorge PH, El Kouche S, Hassan Z, Siblini Y, Umoret R, Safar R, Baspinar O, Robert A, Alberto JM, Oussalah A, Coelho D, Guéant JL, Guéant-Rodriguez RM.   +14 more
europepmc   +1 more source

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder

OBJECTIVES: Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in PURA cause the neurodevelopmental disorder PURA syndrome that has a variable
Goel, H, Braden, RO, Hildebrand, MS, Bahlo, M, Scheffer, IE, Anderson, M, Amor, DJ, Niessing, D, Lauretta, ML, Morgan, AT, Kaspi, A, Janowski, R, Leventer, RJ   +12 more
core   +1 more source

Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists-0

, 2011
Copyright information:Taken from "Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists"BMC Bioinformatics 2005;6(Suppl 4):S18-S18.Published online 1 Dec 2005PMCID:PMC1866390.umber entry ...
Karina Gibert (73548), Mauro Manzotti (73547), Osvaldo Galati (59398), Marco Masseroli (59397), Francesco Pinciroli (59399)   +4 more
core   +1 more source

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

, 2021
International audienceSLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER.
Dell, Anne, Freeze, Hudson, Raymond, Kimiyo, Fiore, Mathieu, Flanagan-Steet, Heather, Steet, Richard, Ng, Bobby, Kulik, Michael, Nickerson, Deborah, Porterfield, Mindy, Tiemeyer, Michael, Bruneel, Arnaud, Sosicka, Paulina, Kumagai, Tadahiro, Michot, Caroline, Haslam, Stuart, Borgel, Delphine, Wagner, Shannon, Warad, Deepti, Harroche, Annie, Fenaille, François, Cholet, Sophie, Bamshad, Michael, Dupré, Thierry, Vuillaumier-Barrot, Sandrine, Xia, Zhi-Jie, Mcgoogan, Katherine, Huguenin, Yohann, Vergnes-Boiteux, Marie-Christine, Dalton, Stephen, Pascreau, Tiffany, Seta, Nathalie   +31 more
core   +1 more source

An unexpected alternative viologen electron mediator site in tungsten‐containing formate dehydrogenase

FEBS Letters, EarlyView.
An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley   +1 more source

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B₁₂. [PDF]

Clin Epigenetics, 2022
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL.   +21 more
europepmc   +1 more source

Cell geometry and membrane protein crowding constrain Escherichia coli growth rate, overflow metabolism, respiration, and maintenance energy

FEBS Letters, EarlyView.
The physical dimensions and shape of bacterial cells define the surface area available to acquire nutrients and the volume available for synthesizing proteins and DNA. Here, we use computational systems biology to decode the importance of cell geometry as a major determinant of prokaryotic phenotype, including growth rate and metabolic efficiency. This
Ross P. Carlson, Tomáš Gedeon, Mauricio Garcia Benitez, Campbell Putnam, William R. Harcombe, Radhakrishnan Mahadevan, Ashley E. Beck   +6 more
wiley   +1 more source