Results 21 to 30 of about 467 (113)

MOCS2 links nucleotide metabolism to nucleoli function. [PDF]

Journal of Molecular Cell Biology, 2022
Tamaki Suganuma, Selene K Swanson, Madelaine Gogol   +2 more
exaly   +2 more sources

Molybdenum cofactor deficiency: A natural history. [PDF]

J Inherit Metab Dis, 2022
Abstract Molybdenum cofactor deficiency (MoCD) includes three ultrarare autosomal recessive inborn errors of metabolism (MoCD type A [MoCD‐A], MoCD‐B, and MoCD‐C) that cause sulfite intoxication disorders. This natural history study analyzed retrospective data for 58 living or deceased patients (MoCD‐A, n = 41; MoCD‐B, n = 17). MoCD genotype, survival,
Spiegel R, Schwahn BC, Squires L, Confer N.   +3 more
europepmc   +2 more sources

Biphasic Memory Impairment and Recovery After Sevoflurane Exposure Are Associated With Time-Dependent Hippocampal α5-GABAAR Remodeling. [PDF]

CNS Neurosci Ther
Our study reveals that the reversible changes in memory impairment and recovery following sevoflurane with dynamic changes of expression and distribution of α5‐GABAAR. Memory impairment is associated with the upregulation of α5‐GABAAR expression and postsynaptic distribution on day 2 after sevoflurane exposure.
Wang S, Chen L, Wang S, Zhang C, Zhang M, Wang Z, Dong J, Liu Q, Dong Z, Wang X, Dong Y, Luo Y, Wang Y, Yin Y.   +13 more
europepmc   +2 more sources

Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency.

International Journal of Medical Sciences and Academic Research, 2023
INTRODUCTION: We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid ...
Dr.shruti dhale , Dr.Anjali Pawar, Dr.shubham Meshram , Dr.Shantanu Sarpate   +3 more
doaj   +1 more source

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency

Frontiers in Genetics, 2021
Background: The molybdenum cofactor (Moco) deficiency in humans results in the inactivity of molybdenum-dependent enzymes and is caused by pathogenic variants in MOCS1 (Molybdenum cofactor synthesis 1), MOCS2 (Molybdenum cofactor synthesis 2), and GPHN ...
Qi Tian, Yang Cao, Li Shu, Li Shu, Li Shu, Yongjun Chen, Ying Peng, Yaqin Wang, Yuanyuan Chen, Hua Wang, Hua Wang, Xiao Mao, Xiao Mao   +12 more
doaj   +1 more source

Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics

IJU Case Reports, Volume 6, Issue 6, Page 436-439, November 2023., 2023
Introduction Early diagnosis of patients with urolithiasis or hypouricemia owing to inborn errors of hypoxanthine metabolism is important in preventing renal failure or drug‐induced toxicity. Case presentation We identified three patients with xanthinuria using gas chromatography/mass spectrometry‐based urine metabolomics: a 72‐year‐old male with ...
Tomiko Kuhara, Masahiro Tetsuo, Morimasa Ohse, Toshihiko Shirakawa, Yumiko Nakashima, Koh‐ichiro Yoshiura, Nagaaki Tanaka, Tadashi Taya   +7 more
wiley   +1 more source

On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023
Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley   +1 more source

Parkinsonism in Genetic Neurodevelopmental Disorders: A Systematic Review

Movement Disorders Clinical Practice, Volume 10, Issue 1, Page 17-31, January 2023., 2023
Abstract Background With advances in clinical genetic testing, associations between genetic neurodevelopmental disorders and parkinsonism are increasingly recognized. In this review, we aimed to provide a comprehensive overview of reports on parkinsonism in genetic neurodevelopmental disorders and summarize findings related to genetic diagnosis ...
Emma N.M.M. von Scheibler, Agnies M. van Eeghen, Tom J. de Koning, Mark L. Kuijf, Janneke R. Zinkstok, Annelieke R. Müller, Thérèse A.M.J. van Amelsvoort, Erik Boot   +7 more
wiley   +1 more source

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis. [PDF]

JIMD Rep
ABSTRACT Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections.
Crenshaw MM, Midgette Y, Mohan S, Wei R, Anneling M, Williams M, Patel M, Cocanougher BT, Young SP, Niyazov D, El-Gharbawy A, Stiles AR.   +11 more
europepmc   +2 more sources