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1,237 Newest Publications in human molecular genetics
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Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited {alpha}-synuclein accumulation and age-dependent sensorimotor deficits
15-05-2013 | Patrick J. Schultheis; Sheila M. Fleming; Amy K. Clippinger; Jada Lewis; Taiji Tsunemi; Benoit Giasson; Dennis W. Di ..., Human Molecular Genetics, 2013
Mutations in ATP13A2 (PARK9), encoding a lysosomal P-type ATPase, are associated with both Kufor–Rakeb syndrome (KRS) and neuronal ceroid lipofuscinosis (NCL). KRS has recently been classified as a rare genetic form of Parkinson's disease (PD), whereas NCL is a lysosomal storage disorder. ...
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
15-05-2013 | Dusanka Milenkovic; Stanka Matic; Inge Kühl; Benedetta Ruzzenente; Christoph Freyer; Elisabeth Jemt; Chan Bae Park; ..., Human Molecular Genetics, 2013
Replication of the mammalian mitochondrial DNA (mtDNA) is dependent on the minimal replisome, consisting of the heterotrimeric mtDNA polymerase (POLG), the hexameric DNA helicase TWINKLE and the tetrameric single-stranded DNA-binding protein (mtSSB). TWINKLE has been shown to unwind DNA ...
Zic3 is required in the migrating primitive streak for node morphogenesis and left–right patterning
15-05-2013 | Mardi J. Sutherland; Shuyun Wang; Malgorzata E. Quinn; Allison Haaning; Stephanie M. Ware, Human Molecular Genetics, 2013
In humans, loss-of-function mutations in ZIC3 cause isolated cardiovascular malformations and X-linked heterotaxy, a disorder with abnormal left–right asymmetry of organs. Zic3 null mice recapitulate the human heterotaxy phenotype but also have early gastrulation defects, axial patterning ...
The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity
15-05-2013 | Amanda C. Leightner; Cynthia J. Hommerding; Ying Peng; Jeffrey L. Salisbury; Vladimir G. Gainullin; Peter G. Czarnec ..., Human Molecular Genetics, 2013
Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 mutation ...
Tuberous sclerosis complex regulates Drosophila neuromuscular junction growth via the TORC2/Akt pathway
15-05-2013 | Rajalaxmi Natarajan; Deepti Trivedi-Vyas; Yogesh P. Wairkar, Human Molecular Genetics, 2013
Mutations in the tuberous sclerosis complex (TSC) are associated with various forms of neurodevelopmental disorders, including autism and epilepsy. The heterodimeric TSC complex, consisting of Tsc1 and Tsc2 proteins, regulates the activity of the TOR (target of rapamycin) complex via Rheb, a ...
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)
01-05-2013 | Roman H. Khonsari; Atsushi Ohazama; Ramin Raouf; Maiko Kawasaki; Katsushige Kawasaki; Thantrira Porntaveetus; Sarah ..., Human Molecular Genetics, 2013
Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca2+ influx, ...
A critical role of astrocyte-mediated nuclear factor-{kappa}B-dependent inflammation in Huntington's disease
01-05-2013 | Han-Yun Hsiao; Yu-Chen Chen; Hui-Mei Chen; Pang-Hsien Tu; Yijuang Chern, Human Molecular Genetics, 2013
Huntington's disease (HD) is an autosomal disease caused by a CAG repeat expansion in the huntingtin (HTT) gene. The resultant mutant HTT protein (mHTT) forms aggregates in various types of cells, including neurons and glial cells and preferentially affects brain function. We found that two ...
Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy
01-05-2013 | Melissa S. Cobb; Ferril F. Rose; Hansjörg Rindt; Jacqueline J. Glascock; Monir Shababi; Madeline R. Miller; Erkan Y. ..., Human Molecular Genetics, 2013
Spinal Muscular Atrophy (SMA) is due to the loss of the survival motor neuron gene 1 (SMN1), resulting in motor neuron (MN) degeneration, muscle atrophy and loss of motor function. While SMN2 encodes a protein identical to SMN1, a single nucleotide difference in exon 7 causes most of the ...
The genome-defence gene Tex19.1 suppresses LINE-1 retrotransposons in the placenta and prevents intra-uterine growth retardation in mice
01-05-2013 | Judith Reichmann; James P. Reddington; Diana Best; David Read; Rupert Öllinger; Richard R. Meehan; Ian R. Adams, Human Molecular Genetics, 2013
DNA methylation plays an important role in suppressing retrotransposon activity in mammalian genomes, yet there are stages of mammalian development where global hypomethylation puts the genome at risk of retrotransposition-mediated genetic instability. Hypomethylated primordial germ cells ...
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis
01-05-2013 | Sophie Monnot; David C. Samuels; Laetitia Hesters; Nelly Frydman; Nadine Gigarel; Philippe Burlet; Violaine Kerbrat; ..., Human Molecular Genetics, 2013
Mitochondrial DNA (mtDNA) content is thought to remain stable over the preimplantation period of human embryogenesis that is, therefore, suggested to be entirely dependent on ooplasm mtDNA capital. We have explored the impact of two disease-causing mutations [m.3243A>G myopathy, ...
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