Citation Impact
Citing Papers
Visualizing enveloping layer glycans during zebrafish early embryogenesis
2010 StandoutNobel
Impairment of starvation-induced and constitutive autophagy in Atg7 -deficient mice
2005 StandoutNobel
A Gene Network Regulating Lysosomal Biogenesis and Function
2009 StandoutScience
Role of Genotype in the Cycle of Violence in Maltreated Children
2002 StandoutScience
Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels
2006 StandoutNobel
The 22q11.2 Deletion Syndrome
2001
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
An integrated map of genetic variation from 1,092 human genomes
2012 StandoutNature
Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe
2018 StandoutNobel
Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: Implications for norrie disease
1989
Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018
Expression of lysosome-related proteins and genes in the skeletal muscles of inclusion body myositis
2003
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland
1992
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
2000 Nature
Sialic acids in human health and disease
2008
At the acidic edge: emerging functions for lysosomal membrane proteins
2003
Mitochondrial genome variation and the origin of modern humans
2000 StandoutNatureNobel
Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome
1998 Standout
Management of congenital nephrotic syndrome of the Finnish type
1995
CATs and HATs: the SLC7 family of amino acid transporters
2004
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
2007 StandoutNobel
Autophagy fights disease through cellular self-digestion
2008 StandoutNature
Autophagy: Renovation of Cells and Tissues
2011 Standout
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Lysosomal metabolism of glycoproteins
2005
Metabolic Delivery of Ketone Groups to Sialic Acid Residues
1998 StandoutNobel
Autophagy in the Pathogenesis of Disease
2008 Standout
A Proteomic Analysis of Lysosomal Integral Membrane Proteins Reveals the Diverse Composition of the Organelle
2004
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
2016
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Substrate Binding Tunes Conformational Flexibility and Kinetic Stability of an Amino Acid Antiporter
2009
Autophagy in Human Health and Disease
2013 Standout
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
1995 Nature
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs
1999
The causes and consequences of genetic heterogeneity in cancer evolution
2013 StandoutNature
The Solute Carrier Family 15A4 Regulates TLR9 and NOD1 Functions in the Innate Immune System and Promotes Colitis in Mice
2011
DNA breaks and chromosome pulverization from errors in mitosis
2012 Nature
Loss of autophagy in the central nervous system causes neurodegeneration in mice
2006 StandoutNature
Autophagy and Human Disease
2007
Mitochondrial dysfunction as a cause of optic neuropathies
2004
Genetics and pathogenesis of inflammatory bowel disease
2011 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
mtDNA Analysis Reveals a Major Late Paleolithic Population Expansion from Southwestern to Northeastern Europe
1998
The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death
2001
22q11.2 deletion syndrome
2015 Standout
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
Regional differences among the Finns: A Y-chromosomal perspective
2006
Genome-Wide Analysis of Single Nucleotide Polymorphisms Uncovers Population Structure in Northern Europe
2008
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
2003 StandoutNatureNobel
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
Y‐Chromosome Analysis of Ancient Hungarian and Two Modern Hungarian‐Speaking Populations from the Carpathian Basin
2008
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
2000 Nature
The Genetic Legacy of Paleolithic Homo sapiens sapiens in Extant Europeans: A Y Chromosome Perspective
2000 StandoutScience
Viruses and mammalian chromosomes IV. Replication of herpes simplex virus in diploid Chinese hamster cells
1965
New Giemsa method for the differential staining of sister chromatids
1974 StandoutNature
Cytokinetic failure and asynchronous nuclear division in BHK cells overexpressing a truncated protein-tyrosine-phosphatase.
1992 StandoutNobel
Induction of Specific Chromosomal Aberrations by Adenovirus Type 12 in Human Embryonic Kidney Cells
1967 StandoutNobel
Checkpoints: Controls That Ensure the Order of Cell Cycle Events
1989 StandoutScienceNobel
Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity.
1992 StandoutNobel
Chromosome aberrations in cultured cells deprived of single essential amino acids
1969
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.
1991
Karyotype-phenotype Correlations in Gonadal Dysgenesis and Their Bearing on the Pathogenesis of Malformations
1965
Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population.
1996 StandoutNobel
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Cholesterol increases kinetic, energetic, and mechanical stability of the human β2-adrenergic receptor
2012 StandoutNobel
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
1994
Chromosomale Aberrationen bei L-Zellen nach Vaccinia-Virus-Infektion
1966
Lysosomal metabolomics reveals V-ATPase- and mTOR-dependent regulation of amino acid efflux from lysosomes
2017 Science
RELATIONSHIPS OF VIRUSES, CHROMOSOMES AND CARCINOGENESIS
2009
Lysosomal cathepsin D mediates endogenous mucin glycodomain catabolism in mammals
2022 StandoutNobel
Membrane proteomics of phagosomes suggests a connection to autophagy
2008 StandoutNobel
NCU-G1 is a highly glycosylated integral membrane protein of the lysosome
2009
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Expression of Two X-Linked Genes in Human Hair Follicles of Double Heterozygotes
1971 StandoutNobel
The Clonal Evolution of Tumor Cell Populations
1976 StandoutScience
New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13
1984
Studies of mammalian chromosome replication
1981
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour
1983 StandoutNatureNobel
Accumulation of N-acetylneuraminic acid (sialic acid) in human fibroblasts cultured in the presence of N-acetylmannosamine
1985
Intracellular Functions of N-Linked Glycans
2001 StandoutScience
Sialic acid metabolism in sialuria fibroblasts.
1991
Accurate and superaccurate gene mapping.
1985
Review
1995
Uptake of Glutamate into Synaptic Vesicles by an Inorganic Phosphate Transporter
2000 Science
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19.
1994
Why the kidney glomerulus does not clog: A gel permeation/diffusion hypothesis of renal function
2003 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
The chromosomal aberraation of double-minutes in three gliomas
1970
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.
1996
Inactivation of CMP- N -acetylneuraminic acid hydroxylase occurred prior to brain expansion during human evolution
2002 StandoutNobel
STUDIES ON THE ROLE OF VIRUSES IN SOMATIC MUTATION
2009
Mammalian Cell Fusion : Induction of Premature Chromosome Condensation in Interphase Nuclei
1970 Nature
Viruses and mammalian chromosomes
1964
Measles associated chromosome breakage
1965
Dissection of Autophagosome Formation Using Apg5-Deficient Mouse Embryonic Stem Cells
2001 StandoutNobel
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
1993 Science
Autophagy as a Regulated Pathway of Cellular Degradation
2000 StandoutScience
THE SEQUENCE OF CHROMOSOME ABERRATIONS DURING SV 40 TRANSFORMATION OF A HUMAN DIPLOID CELL STRAIN1
2009
Chemical Diversity in the Sialic Acids and Related α-Keto Acids: An Evolutionary Perspective
2002
Structures and chromosomal localizations of two human genes encoding synaptobrevins 1 and 2.
1990 StandoutNobel
Differential spiralization along mammalian mitotic chromosomes
1972
Mitotic Separation of Two Human X-Linked Genes in Man—Mouse Somatic Cell Hybrids
1971
Chemical Glycoproteomics
2016 StandoutNobel
Autophagy in Health and Disease: A Double-Edged Sword
2004 StandoutScience
Works of Perttì Aula being referenced
Neurocognitive profiles in Salla disease
2004
Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis
1997
Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami
1999
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy
1993
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.
1991
Expression of Normal and Mutant GFP-Tagged y+L Amino Acid Transporter-1 in Mammalian Cells
2002
Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene
1995
Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin
2002
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
1999
Chromosome Breaks in Leukocytes of Chickenpox Patients. Preliminary communication
2009
CHROMOSOME DAMAGE ASSOCIATED WITH THE MEASLES VIRUS IN VITRO1
2009
Electron-microscopic observations on Sendai virus-induced chromosome pulverization in HeLa cells
2009
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.
1994
A deletion in chromosome 22 can cause digeorge syndrome
1981
mtDNA Haplotype Analysis in Finnish Families with Leber Hereditary Optic Neuroretinopathy
1997
Structural studies of glycoasparagines from urine of a patient with aspartylglycosylaminuria (AGU)
1977
Neurocognitive profiles in Salla disease
2004
RADIOAUTOGRAPHY WITH TRITIATED THYMIDINE IN MEASLES AND SENDAI VIRUS-INDUCED CHROMOSOME PULVERIZATIONS
1967
Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4
1990
Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families
1978
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
1991
Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples
1976
Salla disease
1983
The cytogenetic effects of mycoplasma in human leukocyte cultures
1967
Extreme chromosome breakage induced by measles virus in different in vitro systems. Preliminary communication
2009
'Salla Disease'
1979
Chromosomal damage of human cells induced by Sendai virus.
1965
Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15
1995
Chromosomal investigation in congenital malformations.
1961
Spectrum of mutations in aspartylglucosaminuria.
1991
Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter).
1984
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis
1985