The A30P α-synuclein mutation decreases subventricular zone proliferation.

abstract：:Niemann-Pick C1 (NPC1) disease is a rare, neurodegenerative lysosomal cholesterol storage disorder, typified by progressive cognitive and motor function impairment. Affected individuals usually succumb to the disease in adolescence. 2-Hydroxypropyl-β-cyclodextrin (HP-β-CD) has emerged as a promising intervention that ...

journal_title：Human molecular genetics

authors： Tortelli B,Fujiwara H,Bagel JH,Zhang J,Sidhu R,Jiang X,Yanjanin NM,Shankar RK,Carillo-Carasco N,Heiss J,Ottinger E,Porter FD,Schaffer JE,Vite CH,Ory DS

更新日期：2014-11-15 00:00:00

abstract：:Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neurolig...

journal_title：Human molecular genetics

authors： Rawsthorne H,Calahorro F,Feist E,Holden-Dye L,O'Connor V,Dillon J

更新日期：2021-01-06 00:00:00

abstract：:Both genetic and environmental factors contribute to the development of intellectual disability (ID). Previously, we identified a promoter variant (-113C>A) in PLP2 (proteolipid protein 2) that results in an ∼4-fold reduction of transcript and protein and is overly represented in males with X-linked ID (XLID). The fun...

journal_title：Human molecular genetics

authors： Zhang L,Wang T,Valle D

更新日期：2015-12-20 00:00:00

abstract：:The infantile neuronal ceroid lipofuscinosis (INCL), a rare (one in 100 000 births) but one of the most lethal inherited neurodegenerative storage disorders of childhood, is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene. PPT1 cleaves thioester linkages in s-acylated (palmitoylate...

journal_title：Human molecular genetics

authors： Kim SJ,Zhang Z,Lee YC,Mukherjee AB

更新日期：2006-05-15 00:00:00

abstract：:Several human inherited diseases have been localized to the Xq13.3 region of the human X chromosome (X-linked dystonia with Parkinsonism, sideroblastic anemia, SCID, Menkes disease and X-linked mental retardation loci). Genes involved in the phenotypes have been isolated for only two of them (Menkes and SCIDX). It was...

journal_title：Human molecular genetics

authors： Gecz J,Pollard H,Consalez G,Villard L,Stayton C,Millasseau P,Khrestchatisky M,Fontes M

更新日期：1994-01-01 00:00:00

abstract：:The von Hippel-Lindau (VHL) syndrome (OMIM 193300) is an autosomal dominant disorder caused by deletions or mutations in a tumor suppressor gene on human chromosome 3p25. It is characterized clinically by vascular tumors including benign hemangioblastomas of the cerebellum, spine, brain stem and retina. Clear-cell ren...

journal_title：Human molecular genetics

authors： Friedrich CA

更新日期：2001-04-01 00:00:00

abstract：:Splice modulation therapy has shown great clinical promise in Duchenne muscular dystrophy, resulting in the production of dystrophin protein. Despite this, the relationship between restoring dystrophin to established dystrophic muscle and its ability to induce clinically relevant changes in muscle function is poorly u...

journal_title：Human molecular genetics

authors： Godfrey C,Muses S,McClorey G,Wells KE,Coursindel T,Terry RL,Betts C,Hammond S,O'Donovan L,Hildyard J,El Andaloussi S,Gait MJ,Wood MJ,Wells DJ

更新日期：2015-08-01 00:00:00

abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

journal_title：Human molecular genetics

authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

更新日期：2011-02-01 00:00:00

abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

journal_title：Human molecular genetics

authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

更新日期：2012-07-01 00:00:00

abstract：:Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results f...

journal_title：Human molecular genetics

authors： Shelbourne PF,Keller-McGandy C,Bi WL,Yoon SR,Dubeau L,Veitch NJ,Vonsattel JP,Wexler NS,US-Venezuela Collaborative Research Group.,Arnheim N,Augood SJ

更新日期：2007-05-15 00:00:00

abstract：:We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS...

journal_title：Human molecular genetics

authors： Chakarova CF,Khanna H,Shah AZ,Patil SB,Sedmak T,Murga-Zamalloa CA,Papaioannou MG,Nagel-Wolfrum K,Lopez I,Munro P,Cheetham M,Koenekoop RK,Rios RM,Matter K,Wolfrum U,Swaroop A,Bhattacharya SS

更新日期：2011-03-01 00:00:00

abstract：:The ATM gene is responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T), characterized by cerebellar degeneration, immunodeficiency and cancer predisposition. A-T carriers were reported to be moderately cancer-prone. A wide variety of A-T mutations, most of which are unique to single families, wer...

journal_title：Human molecular genetics

authors： Gilad S,Bar-Shira A,Harnik R,Shkedy D,Ziv Y,Khosravi R,Brown K,Vanagaite L,Xu G,Frydman M,Lavin MF,Hill D,Tagle DA,Shiloh Y

更新日期：1996-12-01 00:00:00

abstract：:The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To unde...

journal_title：Human molecular genetics

authors： Davis RJ,Bennicelli JL,Macina RA,Nycum LM,Biegel JA,Barr FG

更新日期：1995-12-01 00:00:00

abstract：:Development of neural circuitry depends on the integration of signaling pathways to coordinate specification, proliferation and differentiation of cell types in the right number, in the right place, at the right time. Zinc finger protein 423 (Zfp423), a 30-zinc finger transcription factor, forms alternate complexes wi...

journal_title：Human molecular genetics

authors： Alcaraz WA,Chen E,Valdes P,Kim E,Lo YH,Vo J,Hamilton BA

更新日期：2011-10-01 00:00:00

abstract：:Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress...

journal_title：Human molecular genetics

authors： Yudkin D,Hayward BE,Aladjem MI,Kumari D,Usdin K

更新日期：2014-06-01 00:00:00

abstract：:Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, the study of autism associated with Mendelian single gene disorders or known chromosomal etiologies provides an important perspective. We used...

journal_title：Human molecular genetics

authors： Nishimura Y,Martin CL,Vazquez-Lopez A,Spence SJ,Alvarez-Retuerto AI,Sigman M,Steindler C,Pellegrini S,Schanen NC,Warren ST,Geschwind DH

更新日期：2007-07-15 00:00:00

abstract：:Accumulating data suggest a link between alterations/deficiencies in cytoskeletal proteins and the progression of cardiomyopathy and heart failure, although the molecular basis for this link remains unclear. Cypher/ZASP is a cytoskeletal protein localized in the sarcomeric Z-line. Mutations in its encoding gene have b...

journal_title：Human molecular genetics

authors： Zheng M,Cheng H,Li X,Zhang J,Cui L,Ouyang K,Han L,Zhao T,Gu Y,Dalton ND,Bang ML,Peterson KL,Chen J

更新日期：2009-02-15 00:00:00

abstract：:Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair and also associated with various systemic symptoms. Approximately half of TTD patients exhibit photosensitivity, resulting from the defect in the nucleotide excision repair. Photosensitive TTD is due to mutations in three ge...

journal_title：Human molecular genetics

authors： Hashimoto S,Egly JM

更新日期：2009-10-15 00:00:00

abstract：:Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits to screen cDNA libraries of human and bovine retinas, we defined a yeast two-hybrid-based FAM161A i...

journal_title：Human molecular genetics

authors： Di Gioia SA,Farinelli P,Letteboer SJ,Arsenijevic Y,Sharon D,Roepman R,Rivolta C

更新日期：2015-06-15 00:00:00

abstract：:Rett syndrome (RTT) is an X-linked dominant disabling neurodevelopmental disorder caused by loss of function mutations in the MECP2 gene, located at Xq28, which encodes a multifunctional protein. MECP2 expression is regulated in a developmental stage and cell-type-specific manner. The need for tightly controlled MeCP2...

journal_title：Human molecular genetics

authors： Liu J,Francke U

更新日期：2006-06-01 00:00:00

abstract：:In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a...

journal_title：Human molecular genetics

authors： Mustapha M,Weil D,Chardenoux S,Elias S,El-Zir E,Beckmann JS,Loiselet J,Petit C

更新日期：1999-03-01 00:00:00

abstract：:We describe a detection principle for indirect fluorescence in situ hybridization (FISH) methods that with only one or two antibody layers dramatically improves FISH signal intensities. The method uses as a first layer an anti-hapten immunoglobulin [or (strept)avidin] conjugated to peroxidase. The quintessence of the ...

journal_title：Human molecular genetics

authors： Raap AK,van de Corput MP,Vervenne RA,van Gijlswijk RP,Tanke HJ,Wiegant J

更新日期：1995-04-01 00:00:00

abstract：:We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of patients with the Hunter syndrome. Analysis of the resulting rear...

journal_title：Human molecular genetics

authors： Bondeson ML,Dahl N,Malmgren H,Kleijer WJ,Tönnesen T,Carlberg BM,Pettersson U

更新日期：1995-04-01 00:00:00

abstract：:The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetically inhomogeneous. Dominant myotonia congenita (Thomsen's disease) is linked to CLCN1, the gene encoding the major muscle chloride channel, localized on chromosome 7q3...

journal_title：Human molecular genetics

authors： Lehmann-Horn F,Mailänder V,Heine R,George AL

更新日期：1995-08-01 00:00:00

abstract：:Mutations in the human PAX6 gene produce various phenotypes, including aniridia, Peters' anomaly, autosomal dominant keratitis and familial foveal dysplasia. The various phenotypes may arise from different mutations in the same gene. To test this theory, we performed a functional analysis of two missense mutations in ...

journal_title：Human molecular genetics

authors： Tang HK,Chao LY,Saunders GF

更新日期：1997-03-01 00:00:00

abstract：:Parkinson's disease (PD) is a severe neurological disorder, characterized by the progressive degeneration of the dopaminergic nigrostriatal pathway and the presence of Lewy bodies (LBs). The discovery of genes responsible for familial forms of the disease has provided insights into its pathogenesis. Mutations in the p...

journal_title：Human molecular genetics

authors： Corti O,Hampe C,Koutnikova H,Darios F,Jacquier S,Prigent A,Robinson JC,Pradier L,Ruberg M,Mirande M,Hirsch E,Rooney T,Fournier A,Brice A

更新日期：2003-06-15 00:00:00

abstract：:Ataxia oculomotor apraxia type 2 (AOA2) is an autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia and oculomotor apraxia. The gene mutated in AOA2, SETX, encodes senataxin, a putative DNA/RNA helicase which shares high homology to the yeast Sen1p protein and has been shown to play a role ...

journal_title：Human molecular genetics

authors： Suraweera A,Lim Y,Woods R,Birrell GW,Nasim T,Becherel OJ,Lavin MF

更新日期：2009-09-15 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and systemic aspects of the disease. This raises a fundamental question of ...

journal_title：Human molecular genetics

authors： Motyl AAL,Faller KME,Groen EJN,Kline RA,Eaton SL,Ledahawsky LM,Chaytow H,Lamont DJ,Wishart TM,Huang YT,Gillingwater TH

更新日期：2020-09-29 00:00:00

abstract：:Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodyspl...

journal_title：Human molecular genetics

authors： Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier C

更新日期：2005-01-01 00:00:00

abstract：:Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. The hepatic phenylalanine hydroxylating system is regulated by the ratio of l-phenylalanine, which is substrate of phenylalanine hydroxylase (PAH), to the PAH cofactor tetrahydrobiopterin (BH...

journal_title：Human molecular genetics

authors： Eichinger A,Danecka MK,Möglich T,Borsch J,Woidy M,Büttner L,Muntau AC,Gersting SW

更新日期：2018-05-15 00:00:00