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Ataxia with Identified Genetic and Biochemical Defects

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Molecular basis of Leigh syndrome: a current look.

Manuela Schubert Baldo, Laura Vilarinho,

Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neurological symptoms in children under 2 years and premature death. Following cases brought some hypothesis to explain the cause due to ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):31]

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Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of Glycosylation.

Xi Wang, Lin Han, Xiao-Yan Wang, Jian-Hong Wang, Xiao-Meng Li, Chun-Hua Jin, Lin Wang,

Objective:This study reports a Chinese patient with a Congenital Disorder of Glycosylation (CDG) caused by compound-heterozygous mutations in the Conserved Oligomeric Golgi 5 (COG5) gene and thereby offers concrete evidence for early diagnosis. Methods:The clinical manifestations, the results of laboratory examinations and genetic analysis of a 4-year-old Chinese girl with ... Read more >>

Front Genet (Frontiers in genetics)
[2020, 11:168]

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Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia.

Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand,

Optic nerve hypoplasia (ONH) is a congenital malformation with a reduced number of retinal ganglion cell axons in a thin optic nerve. It is a common cause of visual impairment in children and ONH is associated with neurodevelopmental disorders, pituitary hormone deficiencies, and brain malformations. In most cases, the aetiology ... Read more >>

PLoS ONE (PloS one)
[2020, 15(2):e0228622]

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The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.

Piergiorgio La Rosa, Enrico Silvio Bertini, Fiorella Piemonte,

Friedreich's ataxia (FA) is a trinucleotide repeats expansion neurodegenerative disorder, for which no cure or approved therapies are present. In most cases, GAA trinucleotide repetitions in the first intron of the FXN gene are the genetic trigger of FA, determining a strong reduction of frataxin, a mitochondrial protein involved in ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(3):]

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SIRT6 coordinates with CHD4 to promote chromatin relaxation and DNA repair.

Tianyun Hou, Ziyang Cao, Jun Zhang, Ming Tang, Yuan Tian, Yinglu Li, Xiaopeng Lu, Yongcan Chen, Hui Wang, Fu-Zheng Wei, Lina Wang, Yang Yang, Ying Zhao, Zimei Wang, Haiying Wang, Wei-Guo Zhu,

Genomic instability is an underlying hallmark of cancer and is closely associated with defects in DNA damage repair (DDR). Chromatin relaxation is a prerequisite for DDR, but how chromatin accessibility is regulated remains elusive. Here we report that the histone deacetylase SIRT6 coordinates with the chromatin remodeler CHD4 to promote ... Read more >>

Nucleic Acids Res. (Nucleic acids research)
[2020, :]

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PARP inhibitor combinations in prostate cancer.

Carmel Pezaro,

Polyadenosine-diphosphate-ribose polymerase (PARP) inhibitors cause deoxyribonucleic acid (DNA) damage that can be lethal to cells with deficient repair mechanisms. A number of PARP inhibitors are being tested as treatments for men with prostate cancer, both as monotherapies and in combinations that are based on purported synergies in treatment effect. While ... Read more >>

Ther Adv Med Oncol (Therapeutic advances in medical oncology)
[2020, 12:1758835919897537]

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Amino Acid Transport Defects in Human Inherited Metabolic Disorders.

Raquel Yahyaoui, Javier Pérez-Frías,

Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 21(1):]

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Effects of senataxin and RNA exosome on B-cell chromosomal integrity.

David Kazadi, Junghyun Lim, Gerson Rothschild, Veronika Grinstein, Brice Laffleur, Olivier Becherel, Martin J Lavin, Uttiya Basu,

Loss of function of senataxin (SETX), a bona-fide RNA/DNA helicase, is associated with neuronal degeneration leading to Ataxia and Ocular Apraxia (AOA) in human patients. SETX is proposed to promote transcription termination, DNA replication, DNA repair, and to unwind deleterious RNA:DNA hybrids in the genome. In all the above-mentioned mechanisms, ... Read more >>

Heliyon (Heliyon)
[2020, 6(3):e03442]

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Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion.

Marissa Z McMackin, Blythe Durbin-Johnson, Marek Napierala, Jill S Napierala, Luis Ruiz, Eleonora Napoli, Susan Perlman, Cecilia Giulivi, Gino A Cortopassi,

Friedreich's ataxia (FA) is a neurodegenerative disease with no approved therapy that is the result of frataxin deficiency. The identification of human FA blood biomarkers related to disease severity and neuro-pathomechanism could support clinical trials of drug efficacy. To try to identify human biomarkers of neuro-pathomechanistic relevance, we compared the ... Read more >>

PLoS ONE (PloS one)
[2019, 14(10):e0223209]

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Genetic landscape of autism spectrum disorder in Vietnamese children.

Kien Trung Tran, Vinh Sy Le, Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Hieu Thi Nguyen, Lan Thi Mai Dao, Thanh Hong Nguyen, Duc Minh Vu, Lien Thi Ha, Huong Thi Thanh Le, Arijit Mukhopadhyay, Liem Thanh Nguyen,

Autism spectrum disorder (ASD) is a complex disorder with an unclear aetiology and an estimated global prevalence of 1%. However, studies of ASD in the Vietnamese population are limited. Here, we first conducted whole exome sequencing (WES) of 100 children with ASD and their unaffected parents. Our stringent analysis pipeline ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):5034]

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NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models.

Mayanglambam Dhruba Singh, Matthew Jensen, Micaela Lasser, Emily Huber, Tanzeen Yusuff, Lucilla Pizzo, Brian Lifschutz, Inshya Desai, Alexis Kubina, Sneha Yennawar, Sydney Kim, Janani Iyer, Diego E Rincon-Limas, Laura Anne Lowery, Santhosh Girirajan,

The 1.6 Mbp deletion on chromosome 3q29 is associated with a range of neurodevelopmental disorders, including schizophrenia, autism, microcephaly, and intellectual disability. Despite its importance towards neurodevelopment, the role of individual genes, genetic interactions, and disrupted biological mechanisms underlying the deletion have not been thoroughly characterized. Here, we used quantitative ... Read more >>

PLoS Genet. (PLoS genetics)
[2020, 16(2):e1008590]

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu,

Background:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been previously described in ARSACS. Methods:We analyzed clinical manifestations and performed whole-exome sequencing ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(1):8]

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Functional Roles of Long Non-coding RNAs in Motor Neuron Development and Disease.

Kuan-Wei Chen, Jun-An Chen,

Long non-coding RNAs (lncRNAs) have gained increasing attention as they exhibit highly tissue- and cell-type specific expression patterns. LncRNAs are highly expressed in the central nervous system and their roles in the brain have been studied intensively in recent years, but their roles in the spinal motor neurons (MNs) are ... Read more >>

J. Biomed. Sci. (Journal of biomedical science)
[2020, 27(1):38]

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Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.

Dylan Mordaunt, David Cox, Maria Fuller,

Early diagnosis of inborn errors of metabolism (IEM)-a large group of congenital disorders-is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Sarah C Grünert, Jörn Oliver Sass,

BACKGROUND:3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. METHOD:We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom relevant clinical data were available were included in this analysis. Clinical course, biochemical ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):48]

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Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh,

BACKGROUND:Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as "molar tooth sign" associated with hypotonia, respiratory control disturbances and abnormal eye movements. To date, pathogenic variants in ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):18]

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Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers.

Giulia Federici, Silvia Soddu,

The promising expectations about personalized medicine have opened the path to routine large-scale sequencing and increased the importance of genetic counseling for hereditary cancers, among which hereditary breast and ovary cancers (HBOC) have a major impact. High-throughput sequencing, or Next-Generation Sequencing (NGS), has improved cancer patient management, ameliorating diagnosis and ... Read more >>

J. Exp. Clin. Cancer Res. (Journal of experimental & clinical cancer research : CR)
[2020, 39(1):46]

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The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Yevgeniya A Abramzon, Pietro Fratta, Bryan J Traynor, Ruth Chia,

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases that form a broad neurodegenerative continuum. Considerable effort has been made to unravel the genetics of these disorders, and, based on this work, it is now clear that ALS and FTD have a significant genetic overlap. TARDBP, SQSTM1, VCP, ... Read more >>

Front Neurosci (Frontiers in neuroscience)
[2020, 14:42]

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Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders.

Pei-Shan Hou, Darren Ó hAilín, Tanja Vogel, Carina Hanashima,

Forkhead Box G1 (FOXG1) is a member of the Forkhead family of genes with non-redundant roles in brain development, where alteration of this gene's expression significantly affects the formation and function of the mammalian cerebral cortex. FOXG1 haploinsufficiency in humans is associated with prominent differences in brain size and impaired ... Read more >>

Front Cell Neurosci (Frontiers in cellular neuroscience)
[2020, 14:35]

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Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.

Rachel Heon-Roberts, Annie L A Nguyen, Alexey V Pshezhetsky,

The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in their degradation. MPS III or Sanfilippo disease, in particular, is characterized by early-onset severe, progressive neurodegeneration but mild somatic involvement, with patients losing milestones and previously acquired ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(2):]

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Metabolic Alterations in Inherited Cardiomyopathies.

Claudia Sacchetto, Vasco Sequeira, Edoardo Bertero, Jan Dudek, Christoph Maack, Martina Calore,

The normal function of the heart relies on a series of complex metabolic processes orchestrating the proper generation and use of energy. In this context, mitochondria serve a crucial role as a platform for energy transduction by supplying ATP to the varying demand of cardiomyocytes, involving an intricate network of ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(12):]

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Lipids in the Physiopathology of Hereditary Spastic Paraplegias.

Frédéric Darios, Fanny Mochel, Giovanni Stevanin,

Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases sharing spasticity in lower limbs as common symptom. There is a large clinical variability in the presentation of patients, partly underlined by the large genetic heterogeneity, with more than 60 genes responsible for HSP. Despite this large heterogeneity, the proteins ... Read more >>

Front Neurosci (Frontiers in Neuroscience)
[2020, 14:74]

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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.

Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan, Sarah C Gruenert, Bart Ghesquière, Peter Witters, David Cassiman, Pieter Vermeersch,

Primary mitochondrial disease (PMD) is a large group of genetic disorders directly affecting mitochondrial function. Although next generation sequencing technologies have revolutionized the diagnosis of these disorders, biochemical tests remain essential and functional confirmation of the critical genetic diagnosis. While enzymological testing of the mitochondrial oxidative phosphorylation (OXPHOS) complexes remains ... Read more >>

Metabolites (Metabolites)
[2019, 9(10):]

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ATM, ATR and DNA-PKcs kinases-the lessons from the mouse models: inhibition ≠ deletion.

Demis Menolfi, Shan Zha,

DNA damage, especially DNA double strand breaks (DSBs) and replication stress, activates a complex post-translational network termed DNA damage response (DDR). Our review focuses on three PI3-kinase related protein kinases-ATM, ATR and DNA-PKcs, which situate at the apex of the mammalian DDR. They are recruited to and activated at the ... Read more >>

Cell Biosci (Cell & bioscience)
[2020, 10:8]

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Amino Acids 563-566 of the Na+/H+ Exchanger Isoform 1 C-Terminal Cytosolic Tail Prevent Protein Degradation and Stabilize Protein Expression and Activity.

Xiuju Li, Debajyoti Dutta, Martin Jung, Richard Zimmermann, Larry Fliegel,

Isoform one of the mammalian Na+/H+ exchanger is a plasma membrane protein that is ubiquitously present in humans. It regulates intracellular pH through the removal of one intracellular proton in exchange for a single extracellular sodium. It consists of a 500 amino acid membrane domain plus a 315 amino acid, ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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