Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.

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：:Selective loss of dopaminergic neurons is the final common pathway in Parkinson's disease. Expression of Parkin associated endothelin-receptor like receptor (Pael-R) in mouse brain was achieved by injecting adenoviral vectors carrying a modified neuron-specific promoter and Cre recombinase into the striatum. Upregulat...

journal_title：Human molecular genetics

authors： Kitao Y,Imai Y,Ozawa K,Kataoka A,Ikeda T,Soda M,Nakimawa K,Kiyama H,Stern DM,Hori O,Wakamatsu K,Ito S,Itohara S,Takahashi R,Ogawa S

更新日期：2007-01-01 00:00:00

abstract：:An intronic GGGGCC (G4C2) hexanucleotide repeat expansion inC9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD). Repeat-associated non-AUG (RAN) translation of G4C2 RNA can result in five different dipeptide repeat proteins (DPR: poly GA, poly GP, poly GR, ...

journal_title：Human molecular genetics

authors： Lee YB,Baskaran P,Gomez-Deza J,Chen HJ,Nishimura AL,Smith BN,Troakes C,Adachi Y,Stepto A,Petrucelli L,Gallo JM,Hirth F,Rogelj B,Guthrie S,Shaw CE

更新日期：2017-12-15 00:00:00

abstract：:Immunoglobulin-like domain containing receptor 1 (ILDR1) is a poorly characterized gene that was first identified in lymphoma cells. Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. Patients with ILDR1 mutations cause bilateral non-progressive moderate-to-profound sen...

journal_title：Human molecular genetics

authors： Sang Q,Zhang J,Feng R,Wang X,Li Q,Zhao X,Xing Q,Chen W,Du J,Sun S,Chai R,Liu D,Jin L,He L,Li H,Wang L

更新日期：2014-12-01 00:00:00

abstract：:Senataxin, encoded by the SETX gene, contributes to multiple aspects of gene expression, including transcription and RNA processing. Mutations in SETX cause the recessive disorder ataxia with oculomotor apraxia type 2 (AOA2) and a dominant juvenile form of amyotrophic lateral sclerosis (ALS4). To assess the functional...

journal_title：Human molecular genetics

authors： Fogel BL,Cho E,Wahnich A,Gao F,Becherel OJ,Wang X,Fike F,Chen L,Criscuolo C,De Michele G,Filla A,Collins A,Hahn AF,Gatti RA,Konopka G,Perlman S,Lavin MF,Geschwind DH,Coppola G

更新日期：2014-09-15 00:00:00

abstract：:Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the foun...

journal_title：Human molecular genetics

authors： Kenwrick S,Watkins A,De Angelis E

更新日期：2000-04-12 00:00:00

abstract：:Inherited mitochondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 def...

journal_title：Human molecular genetics

authors： Yu AK,Datta S,McMackin MZ,Cortopassi GA

更新日期：2017-12-15 00:00:00

abstract：:Cardiac hypertrophy, an adaptive process that responds to increased wall stress, is characterized by the enlargement of cardiomyocytes and structural remodeling. It is stimulated by various growth signals, of which the mTORC1 pathway is a well-recognized source. Here, we show that loss of Flcn, a novel AMPK-mTOR inter...

journal_title：Human molecular genetics

authors： Hasumi Y,Baba M,Hasumi H,Huang Y,Lang M,Reindorf R,Oh HB,Sciarretta S,Nagashima K,Haines DC,Schneider MD,Adelstein RS,Schmidt LS,Sadoshima J,Marston Linehan W

更新日期：2014-11-01 00:00:00

abstract：:Deletions of the 22q11.2 region distal to the 22q11.21 microdeletion syndrome region have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located distal to the 22q11.21 DiGeorge/velocardiofacial microdeletion regi...

journal_title：Human molecular genetics

authors： Coppinger J,McDonald-McGinn D,Zackai E,Shane K,Atkin JF,Asamoah A,Leland R,Weaver DD,Lansky-Shafer S,Schmidt K,Feldman H,Cohen W,Phalin J,Powell B,Ballif BC,Theisen A,Geiger E,Haldeman-Englert C,Shaikh TH,Saitta S,

更新日期：2009-04-15 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：:Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder, characterised by the association of branchial, otic and renal anomalies with variable degrees of severity. We have recently identified EYA1 , a human homologue of the Drosophila eyes absent gene, as the gene underlying this syndrome. The products of ...

journal_title：Human molecular genetics

authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Levi-Acobas F,Cruaud C,Le Merrer M,Mathieu M,König R,Vigneron J,Weissenbach J,Petit C,Weil D

更新日期：1997-12-01 00:00:00

abstract：:Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent speech. In silico and functional studies using cell lines derived from this individu...

journal_title：Human molecular genetics

authors： Domingo D,Nawaz U,Corbett M,Espinoza JL,Tatton-Brown K,Coman D,Wilkinson MF,Gecz J,Jolly LA

更新日期：2020-08-29 00:00:00

abstract：:Gene amplification is a common phenomenon in malignant neoplasms of all types. One mechanism behind increased gene copy number is the formation of ring chromosomes. Such structures are mitotically unstable and during tumor progression they accumulate material from many different parts of the genome. Hence, their conte...

journal_title：Human molecular genetics

authors： Nord KH,Macchia G,Tayebwa J,Nilsson J,Vult von Steyern F,Brosjö O,Mandahl N,Mertens F

更新日期：2014-02-15 00:00:00

abstract：:Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two ...

journal_title：Human molecular genetics

authors： Morante-Redolat JM,Gorostidi-Pagola A,Piquer-Sirerol S,Sáenz A,Poza JJ,Galán J,Gesk S,Sarafidou T,Mautner VF,Binelli S,Staub E,Hinzmann B,French L,Prud'homme JF,Passarelli D,Scannapieco P,Tassinari CA,Avanzini G,Martí

更新日期：2002-05-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by mutations in the dystrophin gene. The subcellular mechanisms of DMD remain poorly understood and there is currently no curative treatment available. Using a Caenorhabditis elegans model for DMD as a pharmacologic and genetic tool, we found that cyc...

journal_title：Human molecular genetics

authors： Giacomotto J,Brouilly N,Walter L,Mariol MC,Berger J,Ségalat L,Becker TS,Currie PD,Gieseler K

更新日期：2013-11-15 00:00:00

abstract：:Amyotrophic lateral sclerosis (ALS) is a devastating, adult-onset neurodegenerative disorder of the upper and lower motor systems. It leads to paresis, muscle wasting and inevitably to death, typically within 3-5 years. However, disease onset and survival vary considerably ranging in extreme cases from a few months to...

journal_title：Human molecular genetics

authors： Eschbach J,Schwalenstöcker B,Soyal SM,Bayer H,Wiesner D,Akimoto C,Nilsson AC,Birve A,Meyer T,Dupuis L,Danzer KM,Andersen PM,Witting A,Ludolph AC,Patsch W,Weydt P

更新日期：2013-09-01 00:00:00

abstract：:Otosclerosis is a relatively common heterogenous condition, characterized by abnormal bone remodelling in the otic capsule leading to fixation of the stapedial footplate and an associated conductive hearing loss. Although familial linkage and candidate gene association studies have been performed in recent years, litt...

journal_title：Human molecular genetics

authors： Ziff JL,Crompton M,Powell HR,Lavy JA,Aldren CP,Steel KP,Saeed SR,Dawson SJ

更新日期：2016-06-15 00:00:00

abstract：:Microsatellite instability (MSI) characterizes tumors arising in patients with hereditary non-polyposis colorectal cancer (HNPCC) syndrome. HNPCC is a hereditary autosomal dominant disease caused by germline mutations in genes from the DNA (MMR) mismatch repair system. In these tumors, the loss of MMR compromises the ...

journal_title：Human molecular genetics

authors： Alazzouzi H,Domingo E,González S,Blanco I,Armengol M,Espín E,Plaja A,Schwartz S,Capella G,Schwartz S Jr

更新日期：2005-01-15 00:00:00

abstract：:Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available therapy. SMA is caused by loss or mutation of the survival motor neuron 1 gene, SMN1, with retention of a nearly identical copy gene, SMN2. In contrast to SMN1, most SMN2 transcripts lack exon 7. This alternatively splic...

journal_title：Human molecular genetics

authors： Heier CR,DiDonato CJ

更新日期：2009-04-01 00:00:00

abstract：:Genome-wide association studies of colorectal cancer (CRC) have identified a number of common variants associated with modest risk, including rs3802842 at chromosome 11q23.1. Several genes map to this region but rs3802842 does not map to any known transcribed or regulatory sequences. We reasoned, therefore, that rs380...

journal_title：Human molecular genetics

authors： Biancolella M,Fortini BK,Tring S,Plummer SJ,Mendoza-Fandino GA,Hartiala J,Hitchler MJ,Yan C,Schumacher FR,Conti DV,Edlund CK,Noushmehr H,Coetzee SG,Bresalier RS,Ahnen DJ,Barry EL,Berman BP,Rice JC,Coetzee GA,Casey G

更新日期：2014-04-15 00:00:00

abstract：:Niemann-Pick type C (NPC) disease is a fatal recessively inherited lysosomal cholesterol-sphingolipidosis. Mutations in the NPC1 gene cause approximately 95% of the cases, the rest being caused by NPC2 mutations. Here the molecular basis of a severe infantile form of the disease was dissected. The level of NPC1 protei...

journal_title：Human molecular genetics

authors： Blom TS,Linder MD,Snow K,Pihko H,Hess MW,Jokitalo E,Veckman V,Syvänen AC,Ikonen E

更新日期：2003-02-01 00:00:00

abstract：:In human type 1 diabetes (T1D) and in its murine model, the major histocompatibility complex (MHC) class II molecules, human leukocyte antigens (HLA)-DQ and -DR and their murine orthologues, IA and IE, are the major genetic determinants. In this report, we have ranked HLA class II molecule-associated T1D risk in a two...

journal_title：Human molecular genetics

authors： Cucca F,Lampis R,Congia M,Angius E,Nutland S,Bain SC,Barnett AH,Todd JA

更新日期：2001-09-15 00:00:00

abstract：:Leukodystrophies are rare diseases caused by defects in the genes coding for lysosomal enzymes that degrade several glycosphingolipids. Gene therapy for leukodystrophies requires efficient distribution of the missing enzymes in CNS tissues to prevent demyelination and neurodegeneration. In this work, we targeted the e...

journal_title：Human molecular genetics

authors： Lattanzi A,Neri M,Maderna C,di Girolamo I,Martino S,Orlacchio A,Amendola M,Naldini L,Gritti A

更新日期：2010-06-01 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：:Actinic keratosis (AK) is a pre-malignant skin disease, highly prevalent in elderly Europeans. This study investigates genetic susceptibility to AK with a genome-wide association study (GWAS). A full body skin examination was performed in 3194 elderly individuals from the Rotterdam Study (RS) of exclusive north-wester...

journal_title：Human molecular genetics

authors： Jacobs LC,Liu F,Pardo LM,Hofman A,Uitterlinden AG,Kayser M,Nijsten T

更新日期：2015-06-01 00:00:00

abstract：:Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein hom...

journal_title：Human molecular genetics

authors： Bott LC,Badders NM,Chen KL,Harmison GG,Bautista E,Shih CC,Katsuno M,Sobue G,Taylor JP,Dantuma NP,Fischbeck KH,Rinaldi C

更新日期：2016-05-15 00:00:00

abstract：:Clinical trials are underway for the treatment of tuberous sclerosis (TSC)-associated tumours using mTOR inhibitors. Here, we show that many of the earliest renal lesions from Tsc1+/- and Tsc2+/- mice do not exhibit mTOR activation, suggesting that pharmacological targeting of an alternative pathway may be necessary t...

journal_title：Human molecular genetics

authors： Bonnet CS,Aldred M,von Ruhland C,Harris R,Sandford R,Cheadle JP

更新日期：2009-06-15 00:00:00

abstract：:We examined the imprinting status of the insulin-like growth factor II gene (IGF2) in a series of 20 human breast disease samples to determine if disrupted imprinting (as evidenced by biallelic expression), was a demonstrable mechanism of altered gene expression. These samples included benign (n = 7) and malignant bre...

journal_title：Human molecular genetics

authors： McCann AH,Miller N,O'Meara A,Pedersen I,Keogh K,Gorey T,Dervan PA

更新日期：1996-08-01 00:00:00

abstract：:Evidence of the effects of genetic risk score (GRS) on secondary prevention is scarce and mixed. We investigated whether coronary artery disease (CAD) susceptible loci can be used to predict the risk of major adverse cardiovascular events (MACEs) in a cohort with acute coronary syndromes (ACSs). A total of 1667 patien...

journal_title：Human molecular genetics

authors： Jiang J,Zheng Q,Han Y,Qiao S,Chen J,Yuan Z,Yu B,Ge L,Jia J,Gong Y,Wang Z,Chen D,Zhang Y,Huo Y

更新日期：2020-04-15 00:00:00

abstract：:Osteoarthritis (OA), a common skeletal disease, is a leading cause of disability among the elderly populations. OA is characterized by gradual loss of articular cartilage, but the etiology and pathogenesis of OA are largely unknown. Epidemiological and genetic studies have demonstrated that genetic factors play an imp...

journal_title：Human molecular genetics

authors： Mototani H,Mabuchi A,Saito S,Fujioka M,Iida A,Takatori Y,Kotani A,Kubo T,Nakamura K,Sekine A,Murakami Y,Tsunoda T,Notoya K,Nakamura Y,Ikegawa S

更新日期：2005-04-15 00:00:00