Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity.

abstract：:A significant minority of degenerative dementias lack distinctive inclusion bodies, plagues or tangles on pathological examination. Half of these cases have a positive family history of dementia. We have studied the largest published family with such a dementia and mapped the disease locus to a 12 cM region of chromos...

journal_title：Human molecular genetics

authors： Brown J,Ashworth A,Gydesen S,Sorensen A,Rossor M,Hardy J,Collinge J

更新日期：1995-09-01 00:00:00

abstract：:Huntington's disease is neurodegenerative disorder caused by a polyglutamine expansion in the N-terminal region of the huntingtin protein (N17). Here, we analysed the relative contribution of each phosphorylatable residue in the N17 region (T3, S13 and S16) towards huntingtin exon 1 (HTTex1) oligomerization, aggregati...

journal_title：Human molecular genetics

authors： Branco-Santos J,Herrera F,Poças GM,Pires-Afonso Y,Giorgini F,Domingos PM,Outeiro TF

更新日期：2017-10-01 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：:Prolactinomas are the most frequent type of pituitary tumors, which represent 10-20% of all intracranial neoplasms in humans. Prolactinomas develop in mice lacking the prolactin receptor (PRLR), which is a member of the cytokine receptor superfamily that signals via Janus kinase-2-signal transducer and activator of tr...

journal_title：Human molecular genetics

authors： Gorvin CM,Newey PJ,Rogers A,Stokes V,Neville MJ,Lines KE,Ntali G,Lees P,Morrison PJ,Singhellakis PN,Malandrinou FC,Karavitaki N,Grossman AB,Karpe F,Thakker RV

更新日期：2019-03-15 00:00:00

abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

journal_title：Human molecular genetics

authors： Liu C,Bakeri H,Li T,Swaroop A

更新日期：2012-04-15 00:00:00

abstract：:Huntington's disease is a devastating neurodegenerative condition associated with the formation of intraneuronal aggregates by mutant huntingtin. Aggregate formation is a property shared by the nine related diseases caused by polyglutamine codon expansion mutations and also by other neurodegenerative conditions like P...

journal_title：Human molecular genetics

authors： Vacher C,Garcia-Oroz L,Rubinsztein DC

更新日期：2005-11-15 00:00:00

abstract：:Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutation...

journal_title：Human molecular genetics

authors： Amiel J,Attié T,Jan D,Pelet A,Edery P,Bidaud C,Lacombe D,Tam P,Simeoni J,Flori E,Nihoul-Fékété C,Munnich A,Lyonnet S

更新日期：1996-03-01 00:00:00

abstract：:Identification of genes associated with pain insensitivity syndromes can increase the understanding of the pathways involved in pain and contribute to the understanding of how sensory pathways relate to other neurological functions. In this report we describe the mapping and identification of the gene responsible for ...

journal_title：Human molecular genetics

authors： Einarsdottir E,Carlsson A,Minde J,Toolanen G,Svensson O,Solders G,Holmgren G,Holmberg D,Holmberg M

更新日期：2004-04-15 00:00:00

abstract：:Various small molecule pharmacologic agents with different known functions produce similar outcomes in diverse Mendelian and complex disorders, suggesting that they may induce common cellular effects. These molecules include histone deacetylase inhibitors, 4-phenylbutyrate (4PBA) and trichostatin A, and two small mole...

journal_title：Human molecular genetics

authors： Brose RD,Shin G,McGuinness MC,Schneidereith T,Purvis S,Dong GX,Keefer J,Spencer F,Smith KD

更新日期：2012-10-01 00:00:00

abstract：:Synapse abnormalities in Huntington's disease (HD) patients can precede clinical diagnosis and neuron loss by decades. The polyglutamine expansion in the huntingtin (htt) protein that underlies this disorder leads to perturbations in many cellular pathways, including the disruption of Rab11-dependent endosomal recycli...

journal_title：Human molecular genetics

authors： Steinert JR,Campesan S,Richards P,Kyriacou CP,Forsythe ID,Giorgini F

更新日期：2012-07-01 00:00:00

abstract：:Autosomal Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease manifests as scapulo-humero-peroneal muscle wasting and weakness, early joint contractures and dilated ...

journal_title：Human molecular genetics

authors： Thomasson R,Vignier N,Peccate C,Mougenot N,Noirez P,Muchir A

更新日期：2019-07-01 00:00:00

abstract：:The mutation causing myotonic dystrophy (DM) has recently been identified as an unstable CTG trinucleotide repeat located in the 3' untranslated region of a gene encoding for a protein with putative serine-threonine protein kinase activity. In this report we present the genomic sequences of the human and murine DM kin...

journal_title：Human molecular genetics

authors： Mahadevan MS,Amemiya C,Jansen G,Sabourin L,Baird S,Neville CE,Wormskamp N,Segers B,Batzer M,Lamerdin J

更新日期：1993-03-01 00:00:00

abstract：:Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. Brain-derived neurotroph...

journal_title：Human molecular genetics

authors： Ribasés M,Gratacòs M,Fernández-Aranda F,Bellodi L,Boni C,Anderluh M,Cavallini MC,Cellini E,Di Bella D,Erzegovesi S,Foulon C,Gabrovsek M,Gorwood P,Hebebrand J,Hinney A,Holliday J,Hu X,Karwautz A,Kipman A,Komel R,Na

更新日期：2004-06-15 00:00:00

abstract：:Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oli...

journal_title：Human molecular genetics

authors： Longo F,Benedetti S,Zambon AA,Sora MGN,Di Resta C,De Ritis D,Quattrini A,Maltecca F,Ferrari M,Previtali SC

更新日期：2020-01-15 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is among the most common monogenic disorders mainly associated with PKD1/PC1 mutations. We show herein that renal regulation in Pc1 dosage-reduced and -increased mouse models converge toward stimulation of c-Myc expression along with β-catenin, delineating c-Myc as ...

journal_title：Human molecular genetics

authors： Parrot C,Kurbegovic A,Yao G,Couillard M,Côté O,Trudel M

更新日期：2019-03-01 00:00:00

abstract：:Insulin-like growth factor II (IGF-II) is a mitogen for many cell types and an important modulator of muscle growth and differentiation. IGF-II gene is prevalently expressed during prenatal development and its gene activity is regulated by genomic imprinting, in that the allele inherited from the father is active and ...

journal_title：Human molecular genetics

authors： Pedone PV,Tirabosco R,Cavazzana AO,Ungaro P,Basso G,Luksch R,Carli M,Bruni CB,Frunzio R,Riccio A

更新日期：1994-07-01 00:00:00

abstract：:Human embryo development occurs through a process that encompasses reprogramming, sequential cleavage divisions and mitotic chromosome segregation and embryonic genome activation. Chromosomal abnormalities may arise during germ cell and/or pre-implantation embryo development, and are a major cause of spontaneous misca...

journal_title：Human molecular genetics

authors： Ambartsumyan G,Clark AT

更新日期：2008-04-15 00:00:00

abstract：:Prion diseases encompass a diverse group of neurodegenerative conditions characterized by the accumulation of misfolded prion protein (PrP) isoforms. Other conformational variants of PrP have also been proposed to contribute to neurotoxicity in prion diseases, including misfolded intermediates as well as cytosolic and...

journal_title：Human molecular genetics

authors： Sanchez-Garcia J,Arbelaez D,Jensen K,Rincon-Limas DE,Fernandez-Funez P

更新日期：2013-11-01 00:00:00

abstract：:Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine tract explain up to 70% of the age-at-onset variance, with the rest of the variance attribu...

journal_title：Human molecular genetics

authors： Corrochano S,Blanco G,Williams D,Wettstein J,Simon M,Kumar S,Moir L,Agnew T,Stewart M,Landman A,Kotiadis VN,Duchen MR,Wackerhage H,Rubinsztein DC,Brown SDM,Acevedo-Arozena A

更新日期：2018-05-15 00:00:00

abstract：:Niemann-Pick type C (NPC) disease, an autosomal recessive disorder caused primarily by loss-of-function mutations in NPC1 gene, is characterized neuropathologically by intracellular cholesterol accumulation, gliosis and neuronal loss in selected brain regions. Recent studies have shown that NPC disease exhibits intrig...

journal_title：Human molecular genetics

authors： Maulik M,Ghoshal B,Kim J,Wang Y,Yang J,Westaway D,Kar S

更新日期：2012-11-15 00:00:00

abstract：:The gene which is defective in Duchenne muscular dystrophy (DMD) is the largest known gene. The product of the gene in muscle, dystrophin, is a 427 kDa protein. The same gene encodes at least six additional products: two non-muscle dystrophin isoforms transcribed from promoters located in the 5'-end region of the gene...

journal_title：Human molecular genetics

authors： Wang J,Pansky A,Venuti JM,Yaffe D,Nudel U

更新日期：1998-04-01 00:00:00

abstract：:Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we used the polymerase chain...

journal_title：Human molecular genetics

authors： Blanquet V,Turleau C,Gross MS,Goossens M,Besmond C

更新日期：1993-07-01 00:00:00

abstract：:The zinc metalloprotease ZMPSTE24 plays a critical role in nuclear lamin biology by cleaving the prenylated and carboxylmethylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. A defect in this proteolytic event, caused by a mutation in the lamin A gene (LMNA) that eliminates the ZMPSTE...

journal_title：Human molecular genetics

authors： Barrowman J,Wiley PA,Hudon-Miller SE,Hrycyna CA,Michaelis S

更新日期：2012-09-15 00:00:00

abstract：:Two common inflammatory skin disorders with impaired barrier, atopic dermatitis (AD) and psoriasis, share distinct genetic linkage to the Epidermal Differentiation Complex (EDC) locus on 1q21. The EDC is comprised of tandemly arrayed gene families encoding proteins involved in skin cell differentiation. Discovery of s...

journal_title：Human molecular genetics

authors： de Guzman Strong C,Conlan S,Deming CB,Cheng J,Sears KE,Segre JA

更新日期：2010-04-15 00:00:00

abstract：:Huntington's disease (HD) is caused by the expansion mutation above a length threshold of a polyglutamine (polyQ) stretch in the huntingtin (Htt) protein. Mutant Htt (mHtt) pathogenicity is proposed to rely on its malfunction and propensity to misfold and aggregate. Htt has scaffolding properties and has been reported...

journal_title：Human molecular genetics

authors： Davranche A,Aviolat H,Zeder-Lutz G,Busso D,Altschuh D,Trottier Y,Klein FA

更新日期：2011-07-15 00:00:00

abstract：:Arrhythmogenic cardiomyopathy (ACM) is a disorder characterized by a progressive ventricular myocardial replacement by fat and fibrosis, which lead to ventricular arrhythmias and sudden cardiac death. Mutations in the desmosomal gene Plakophilin-2 (PKP2) accounts for >40% of all known mutations, generally causing a tr...

journal_title：Human molecular genetics

authors： Moncayo-Arlandi J,Guasch E,Sanz-de la Garza M,Casado M,Garcia NA,Mont L,Sitges M,Knöll R,Buyandelger B,Campuzano O,Diez-Juan A,Brugada R

更新日期：2016-09-01 00:00:00

abstract：:Mutations of the thyroid hormone receptor α gene (THRA) cause hypothyroidism in patients with growth and developmental retardation, and skeletal dysplasia. Genetic evidence indicates that the dominant negative activity of TRα1 mutants underlies pathological manifestations. Using a mouse model of hypothyroidism caused ...

journal_title：Human molecular genetics

authors： Kim DW,Park JW,Willingham MC,Cheng SY

更新日期：2014-05-15 00:00:00

abstract：:Dysfunction of mitochondrial translation is an increasingly important molecular cause of human disease, but structural defects of mitochondrial ribosomal subunits are rare. We used next-generation sequencing to identify a homozygous variant in the mitochondrial small ribosomal protein 14 (MRPS14, uS14m) in a patient m...

journal_title：Human molecular genetics

authors： Jackson CB,Huemer M,Bolognini R,Martin F,Szinnai G,Donner BC,Richter U,Battersby BJ,Nuoffer JM,Suomalainen A,Schaller A

更新日期：2019-02-15 00:00:00

abstract：:While constructing a cDNA library of human embryos, we have isolated a clone homologous to jumonji, a mouse gene required for neural tube formation. We have determined the complete coding sequence of the human homologue (JMJ) and deduced the amino acid sequence of the putative protein. We show here that human and mous...

journal_title：Human molecular genetics

authors： Bergé-Lefranc JL,Jay P,Massacrier A,Cau P,Mattei MG,Bauer S,Marsollier C,Berta P,Fontes M

更新日期：1996-10-01 00:00:00

abstract：:Skin color is a highly heritable human trait, and global variation in skin pigmentation has been shaped by natural selection, migration, and admixture. Ethnically diverse African populations harbor extremely high levels of genetic and phenotypic diversity, and skin pigmentation varies widely across Africa. Recent geno...

journal_title：Human molecular genetics

authors： Feng Y,McQuillan MA,Tishkoff SA

更新日期：2021-01-12 00:00:00