Parkin functionally interacts with PGC-1α to preserve mitochondria and protect dopaminergic neurons.

abstract：:Mutations in the survival motor neuron (SMN1) gene lead to the neuromuscular disease spinal muscular atrophy (SMA). Although SMA is primarily considered as a motor neuron disease, the importance of muscle defects in its pathogenesis has not been fully examined. We use both primary cell culture and two different SMA mo...

journal_title：Human molecular genetics

authors： Boyer JG,Deguise MO,Murray LM,Yazdani A,De Repentigny Y,Boudreau-Larivière C,Kothary R

更新日期：2014-08-15 00:00:00

abstract：:One mechanism by which endogenous microRNAs (miRNAs) function is to suppress translation of target mRNAs. Computational identification of target mRNAs is hampered by the partial complementarity between miRNAs and their targets and the lack of in vivo approaches to identify targets. Here, we identify mRNAs that are reg...

journal_title：Human molecular genetics

authors： Nakamoto M,Jin P,O'Donnell WT,Warren ST

更新日期：2005-12-15 00:00:00

abstract：:Mutations in the ORF15 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision. In dogs and mice, gene augmentation therapy has been shown to arrest the progressive degeneration of rod and cone photoreceptors. However, the distribution of potentially tre...

journal_title：Human molecular genetics

authors： Charng J,Cideciyan AV,Jacobson SG,Sumaroka A,Schwartz SB,Swider M,Roman AJ,Sheplock R,Anand M,Peden MC,Khanna H,Heon E,Wright AF,Swaroop A

更新日期：2016-12-15 00:00:00

abstract：:Mutations at a single locus, PKHD1, are responsible for causing human autosomal recessive polycystic kidney disease (ARPKD). Recent studies suggest that the cystic disease might result from defects in planar cell polarity, but how the 4074 amino acid ciliary protein encoded by the longest open reading frame of this tr...

journal_title：Human molecular genetics

authors： Kaimori JY,Nagasawa Y,Menezes LF,Garcia-Gonzalez MA,Deng J,Imai E,Onuchic LF,Guay-Woodford LM,Germino GG

更新日期：2007-04-15 00:00:00

abstract：:Retinitis pigmentosa (RP), a genetically heterogeneous group of retinopathies that occur in both non-syndromic and syndromic forms, is caused by mutations in ∼100 genes. Although recent advances in next-generation sequencing have aided in the discovery of novel RP genes, a number of the underlying contributing genes a...

journal_title：Human molecular genetics

authors： Xie YA,Lee W,Cai C,Gambin T,Nõupuu K,Sujirakul T,Ayuso C,Jhangiani S,Muzny D,Boerwinkle E,Gibbs R,Greenstein VC,Lupski JR,Tsang SH,Allikmets R

更新日期：2014-11-01 00:00:00

abstract：:The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population. We therefore genotyped a large series of path...

journal_title：Human molecular genetics

authors： Singleton AB,Smith G,Gibson AM,Woodward R,Perry RH,Ince PG,Edwardson JA,Morris CM

更新日期：1998-05-01 00:00:00

abstract：:Ciliopathies form a group of inherited disorders sharing several clinical manifestations because of abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important ...

journal_title：Human molecular genetics

authors： Li J,Lu D,Liu H,Williams BO,Overbeek PA,Lee B,Zheng L,Yang T

更新日期：2017-08-01 00:00:00

abstract：:Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD ...

journal_title：Human molecular genetics

authors： Alankarage D,Szot JO,Pachter N,Slavotinek A,Selleri L,Shieh JT,Winlaw D,Giannoulatou E,Chapman G,Dunwoodie SL

更新日期：2020-05-08 00:00:00

abstract：:Deficiency of the mitochondrial matrix protein frataxin causes Friedreich ataxia. Frataxin function is believed to be related to mitochondrial iron metabolism and free radical production. In Friedreich ataxia, loss of dorsal root ganglia neurons occurs early in life, suggesting a developmental process. In addition, fr...

journal_title：Human molecular genetics

authors： Santos MM,Ohshima K,Pandolfo M

更新日期：2001-09-01 00:00:00

abstract：:Immunoglobulin E (IgE) concentration in serum is elevated in atopic diseases such as asthma. A large genomic region on chromosome 5 has previously been implicated in the control of IgE levels and bronchial hyperreactivity and may, therefore, harbor genes predisposing to asthma. In an effort to confirm this linkage and...

journal_title：Human molecular genetics

authors： Laitinen T,Kauppi P,Ignatius J,Ruotsalainen T,Daly MJ,Kääriäinen H,Kruglyak L,Laitinen H,de la Chapelle A,Lander ES,Laitinen LA,Kere J

更新日期：1997-11-01 00:00:00

abstract：:Many genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but important knowledge gaps exist in the roles of these genes in kidney cell biology and renal diseases. More animal models are needed to assess the functions of these genes in vivo, and to determine how they cause NS in a tim...

journal_title：Human molecular genetics

authors： Fu Y,Zhu JY,Richman A,Zhao Z,Zhang F,Ray PE,Han Z

更新日期：2017-02-15 00:00:00

abstract：:We recently described two opposing states of transcriptional competency. One is termed 'competent' whereby a gene is capable of responding to trans-acting transcription factors of the cell, such that it is active if appropriate transcriptional activators are present, though it can also be silent if activators are abse...

journal_title：Human molecular genetics

authors： Lee JH,Gaetz J,Bugarija B,Fernandes CJ,Snyder GE,Bush EC,Lahn BT

更新日期：2009-07-15 00:00:00

abstract：:Leukocyte telomere length (LTL) might be causal in cardiovascular disease and major cancers. To elucidate the roles of genetics and geography in LTL variability across humans, we compared LTL measured in 1295 sub-Saharan Africans (SSAs) with 559 African-Americans (AAms) and 2464 European-Americans (EAms). LTL differed...

journal_title：Human molecular genetics

authors： Hunt SC,Hansen MEB,Verhulst S,McQuillan MA,Beggs W,Lai TP,Mokone GG,Mpoloka SW,Meskel DW,Belay G,Nyambo TB,Abnet CC,Yeager M,Chanock SJ,Province MA,Williams SM,Aviv A,Tishkoff SA

更新日期：2020-11-04 00:00:00

abstract：:Genome-wide association studies (GWASs) identified over 500 single nucleotide polymorphisms (SNPs) influencing cancer risk. It is logical to expect the cancer-associated genes to cluster in pathways directly involved in carcinogenesis, e.g. cell cycle. Nevertheless, analyses of the GWAS-detected cancer risk genes usua...

journal_title：Human molecular genetics

authors： Gorlova OY,Demidenko EI,Amos CI,Gorlov IP

更新日期：2017-04-15 00:00:00

abstract：:The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated ...

journal_title：Human molecular genetics

authors： Savov A,Mercier B,Kalaydjieva L,Férec C

更新日期：1994-01-01 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：: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：:During postnatal development, neuronal activity controls the remodeling of initially imprecise neuronal connections through the regulation of gene expression. MeCP2 binds to methylated DNA and modulates gene expression during neuronal development and MECP2 mutation causes the autistic disorder Rett syndrome. To invest...

journal_title：Human molecular genetics

authors： Lee W,Yun JM,Woods R,Dunaway K,Yasui DH,Lasalle JM,Gong Q

更新日期：2014-12-01 00:00:00

abstract：:Despite advancements in genetic studies, it is difficult to understand and characterize the functional relevance of disease-associated genetic variants, especially in the context of a complex multifactorial disease such as multiple sclerosis (MS). As a large proportion of expression quantitative trait loci (eQTLs) are...

journal_title：Human molecular genetics

authors： James T,Lindén M,Morikawa H,Fernandes SJ,Ruhrmann S,Huss M,Brandi M,Piehl F,Jagodic M,Tegnér J,Khademi M,Olsson T,Gomez-Cabrero D,Kockum I

更新日期：2018-03-01 00:00:00

abstract：:CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish mode...

journal_title：Human molecular genetics

authors： Asad Z,Pandey A,Babu A,Sun Y,Shevade K,Kapoor S,Ullah I,Ranjan S,Scaria V,Bajpai R,Sachidanandan C

更新日期：2016-08-15 00:00:00

abstract：:We present the analysis of a prospective multicentre study to investigate genetic effects on the prognosis of newly treated epilepsy. Patients with a new clinical diagnosis of epilepsy requiring medication were recruited and followed up prospectively. The clinical outcome was defined as freedom from seizures for a min...

journal_title：Human molecular genetics

authors： Speed D,Hoggart C,Petrovski S,Tachmazidou I,Coffey A,Jorgensen A,Eleftherohorinou H,De Iorio M,Todaro M,De T,Smith D,Smith PE,Jackson M,Cooper P,Kellett M,Howell S,Newton M,Yerra R,Tan M,French C,Reuber M,Sills

更新日期：2014-01-01 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of A...

journal_title：Human molecular genetics

authors： Lagier-Tourenne C,Polymenidou M,Cleveland DW

更新日期：2010-04-15 00:00:00

abstract：:Machado-Joseph disease (MJD) is a fatal, dominant neurodegenerative disorder. MJD results from polyglutamine repeat expansion in the MJD-1 gene, conferring a toxic gain of function to the ataxin-3 protein. In this study, we aimed at overexpressing ataxin-3 in the rat brain using lentiviral vectors (LV), to generate an...

journal_title：Human molecular genetics

authors： Alves S,Régulier E,Nascimento-Ferreira I,Hassig R,Dufour N,Koeppen A,Carvalho AL,Simões S,de Lima MC,Brouillet E,Gould VC,Déglon N,de Almeida LP

更新日期：2008-07-15 00:00:00

abstract：:Inherited defects in the X-chromosomal adrenoleukodystrophy (ALD; ABCD1) gene are the genetic cause of the severe neurodegenerative disorder X-linked adrenoleukodystrophy (X-ALD). Biochemically the accumulation of very long-chain fatty acids, caused by impaired peroxisomal beta-oxidation, is the pathognomonic characte...

journal_title：Human molecular genetics

authors： Unterrainer G,Molzer B,Forss-Petter S,Berger J

更新日期：2000-11-01 00:00:00

abstract：:The fragile X syndrome results from transcriptional silencing of the FMR1 gene and the absence of its encoded FMRP protein. Two autosomal homologues of the FMR1 gene, FXR1 and FXR2, have been identified and the overall structures of the corresponding proteins are very similar to that of FMRP. Using antibodies raised a...

journal_title：Human molecular genetics

authors： Khandjian EW,Bardoni B,Corbin F,Sittler A,Giroux S,Heitz D,Tremblay S,Pinset C,Montarras D,Rousseau F,Mandel J

更新日期：1998-12-01 00:00:00

abstract：:Epigenetic differences are a common feature of many diseases, including cancer, and disease-associated changes have even been detected in bodily fluids. DNA modification studies in circulating DNA (cirDNA) may lead to the development of specific non-invasive biomarkers. To test this hypothesis, we investigated cirDNA ...

journal_title：Human molecular genetics

authors： Cortese R,Kwan A,Lalonde E,Bryzgunova O,Bondar A,Wu Y,Gordevicius J,Park M,Oh G,Kaminsky Z,Tverkuviene J,Laurinavicius A,Jankevicius F,Sendorek DH,Haider S,Wang SC,Jarmalaite S,Laktionov P,Boutros PC,Petronis A

更新日期：2012-08-15 00:00:00

abstract：:The members of the huntingtin-interacting protein-1 (HIP1) family, HIP1 and HIP1-related (HIP1r), are multi-domain proteins that interact with inositol lipids, clathrin and actin. HIP1 is over-expressed in a variety of cancers and both HIP1 and HIP1r prolong the half-life of multiple growth factor receptors. To better...

journal_title：Human molecular genetics

authors： Bradley SV,Hyun TS,Oravecz-Wilson KI,Li L,Waldorff EI,Ermilov AN,Goldstein SA,Zhang CX,Drubin DG,Varela K,Parlow A,Dlugosz AA,Ross TS

更新日期：2007-06-01 00:00:00

abstract：:Ciliary trafficking defects are the underlying cause of many ciliopathies, including Retinitis Pigmentosa (RP). Anterograde intraflagellar transport (IFT) is mediated by kinesin motor proteins; however, the function of the homodimeric Kif17 motor in cilia is poorly understood, whereas Kif7 is known to play an importan...

journal_title：Human molecular genetics

authors： Schwarz N,Lane A,Jovanovic K,Parfitt DA,Aguila M,Thompson CL,da Cruz L,Coffey PJ,Chapple JP,Hardcastle AJ,Cheetham ME

更新日期：2017-07-01 00:00:00

abstract：:The protein ataxin-3 (ATX3) triggers an amyloid-related neurodegenerative disease when its polyglutamine stretch is expanded beyond a critical threshold. We formerly demonstrated that the polyphenol epigallocatechin-3-gallate (EGCG) could redirect amyloid aggregation of a full-length, expanded ATX3 (ATX3-Q55) towards ...

journal_title：Human molecular genetics

authors： Visentin C,Pellistri F,Natalello A,Vertemara J,Bonanomi M,Gatta E,Penco A,Relini A,De Gioia L,Airoldi C,Regonesi ME,Tortora P

更新日期：2017-09-01 00:00:00

abstract：:Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

journal_title：Human molecular genetics

authors： McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

更新日期：2005-11-15 00:00:00